Summary stats

General stats about the patient cohort

Stat Value
Unique HPO terms 3670
Cohort size 22018
Rejected patients by empty profile 0
HPOs per patient (average) 5.3682
HPO terms per patient: percentile 90 1
Percentage of HPO with more specific children 63.3674
DsI for uniq HP terms 0.1307883817427386
DsI for frequency weigthed HP terms 0.1954277633749705
Number of unknown phenotypes 0
Number of clusters with mutations accross > 1 chromosomes 12310
Average variant size 3505413.7133
Nucleotides affected by mutations 2926565057
Number of genome windows 39234
Mean patients per genome window 62.0611
Number of genome window shared by >= 2 patients 39208
Number of patients with at least 1 SOR 22018
Nucleotides affected by mutations 2913279370

HPO stats

HPOs more frequent in the cohort

HPO Patient percentage
Intellectual disability 34.98955400127169
Global developmental delay 14.206558270505951
Delayed speech and language development 12.871287128712872
Microcephaly 9.206104096648197
Hypotonia 8.488509401398856
Autism 6.994277409392316
Micrognathia 6.630938323190118
Low-set ears 6.476519211554183
Hypertelorism 6.444727041511491
Short stature 6.226723589790171
Seizure 6.17676446543737
Proportionate short stature 5.668089744754292
Strabismus 5.168498501226269
Epicanthus 5.05949677536561
Autistic behavior 4.59169770188028
Small for gestational age 4.319193387228632
High palate 4.291942955763466
Downslanted palpebral fissures 3.63793260059951
Abnormal facial shape 3.6333908620219817
Ventricular septal defect 3.320010900172586
Wide nasal bridge 3.310927423017531
Feeding difficulties in infancy 3.2791352529748385
EEG abnormality 3.233717867199564
Depressed nasal bridge 3.2064674357343987
Frontal bossing 3.138341357071487
Behavioral abnormality 3.07929875556363
Cryptorchidism 3.0656735398310473
Obesity 3.0611318012535196
Short neck 3.052048324098465
Upslanted palpebral fissure 3.0020891997456625
Cognitive impairment 2.9430465982378053
Thin upper lip vermilion 2.9157961667726404
Intellectual disability, moderate 2.8658370424198383
Macrocephaly 2.824961395222091
Cleft palate 2.7522935779816518
Abnormality of the pinna 2.711417930783904
Long philtrum 2.688709237896267
Short nose 2.6750840221636842
Scoliosis 2.5751657734580795
Intellectual disability, mild 2.529748387682805
Single transverse palmar crease 2.507039694795168
Atrial septal defect 2.50249795621764
Anteverted nares 2.388954491779453
Specific learning disability 2.338995367426651
Finger clinodactyly 2.2981197202289034
Recurrent infections 2.261785811608684
Premature birth 2.170951040058134
Downturned corners of mouth 2.1527840857480243
Ptosis 2.1346171314379143
Macrotia 2.0256154055772546
Congenital microcephaly 2.0119901898446724
Short palpebral fissure 1.99836497411209
Posteriorly rotated ears 1.957489326914343
Narrow mouth 1.9256971568716506
Brachycephaly 1.921155418294123
Joint laxity 1.8303206467435735
Deeply set eye 1.807611953855936
Protruding ear 1.7849032609682984
Prominent nasal bridge 1.7531110909256062
Hydrocephalus 1.748569352348079
Hearing impairment 1.7076937051503316
Short philtrum 1.6986102279952766
Hypospadias 1.6804432736851667
Aggressive behavior 1.6804432736851667
Attention deficit hyperactivity disorder 1.6350258879098918
Talipes equinovarus 1.6304841493323643
Intrauterine growth retardation 1.6123171950222546
Mild global developmental delay 1.5986919792896719
Hyperactivity 1.5896085021346171
Inguinal hernia 1.5805250249795622
Hypoplasia of the corpus callosum 1.51239894631665
2-3 toe syndactyly 1.4896902534290126
Pes planus 1.4760650376964302
Bulbous nose 1.4715232991189027
Clinodactyly of the 5th finger 1.4306476519211555
Motor delay 1.4306476519211555
Wide intermamillary distance 1.4261059133436278
Wide mouth 1.417022436188573
Patent ductus arteriosus 1.417022436188573
Microtia 1.3806885275683531
Micropenis 1.3806885275683531
Tapered finger 1.3806885275683531
Brachydactyly 1.357979834680716
Generalized hypotonia 1.339812880370606
High anterior hairline 1.3080207103279136
Abnormality of the face 1.294395494595331
Sacral dimple 1.2807702788627486
Plagiocephaly 1.2580615859751112
Synophrys 1.2489781088200562
Narrow forehead 1.2308111545099465
Arachnodactyly 1.2262694159324188
Moderate global developmental delay 1.208102461622309
Facial asymmetry 1.189935507312199
Camptodactyly of finger 1.1853937687346716
Pectus excavatum 1.1763102915796166
Hypermetropia 1.1626850758470344
Pulmonic stenosis 1.1581433372695067
Overlapping toe 1.130892905804342
Hypotelorism 1.121809428649287
Constipation 1.1081842129167045
Broad forehead 1.103642474339177
Malar flattening 1.0809337814515396
Dolichocephaly 1.0809337814515396
Short foot 1.0809337814515396
Prominent nose 1.0627668271414297
Hypoplastic philtrum 1.035516395676265
Thick upper lip vermilion 1.0128077027886273
Short attention span 1.0037242256335726
Telecanthus 1.0037242256335726
Umbilical hernia 0.9900990099009901
Small hand 0.9810155327459352
Growth delay 0.9764737941684077
Long face 0.9719320555908801
Myopia 0.9719320555908801
Thick lower lip vermilion 0.9492233627032429
Blepharophimosis 0.9355981469706605
Spasticity 0.9355981469706605
Midface retrusion 0.931056408393133
Sensorineural hearing impairment 0.9219729312380779
Tetralogy of Fallot 0.912889454083023
Preauricular pit 0.912889454083023
Nystagmus 0.912889454083023
Trigonocephaly 0.8992642383504406
Mandibular prognathia 0.8947224997729131
Tall stature 0.8856390226178581
Sandal gap 0.8765555454628031
Narrow palate 0.8629303297302207
Ataxia 0.8629303297302207
Microphthalmia 0.8538468525751658
Hydronephrosis 0.8447633754201107
Sleep disturbance 0.8402216368425833
Small nail 0.8402216368425833
Preauricular skin tag 0.8402216368425833
Delayed closure of the anterior fontanelle 0.8220546825324735
Round face 0.8175129439549459
Stereotypy 0.8129712053774185
Long eyelashes 0.808429466799891
Flat occiput 0.808429466799891
Neonatal hypotonia 0.8038877282223635
Intellectual disability, severe 0.7857207739122536
Broad nasal tip 0.7811790353347261
Proximal placement of thumb 0.7811790353347261
Hypertonia 0.7766372967571986
Abnormality of cardiovascular system morphology 0.7720955581796712
Triangular face 0.7675538196021436
Thick eyebrow 0.7539286038695613
Abnormal heart morphology 0.7539286038695613
Proptosis 0.7539286038695613
Everted lower lip vermilion 0.7448451267145063
Delayed skeletal maturation 0.7403033881369788
Highly arched eyebrow 0.7403033881369788
Thin lower lip vermilion 0.7266781724043964
Iris coloboma 0.7266781724043964
Low anterior hairline 0.7221364338268689
Anal atresia 0.7221364338268689
Kyphosis 0.7221364338268689
Low posterior hairline 0.7175946952493415
Delayed gross motor development 0.7175946952493415
Webbed neck 0.7085112180942865
Joint hypermobility 0.7039694795167589
Generalized hirsutism 0.6994277409392315
Hip dislocation 0.6948860023617041
Craniosynostosis 0.6903442637841766
Absent speech 0.6812607866291216
Polyhydramnios 0.6812607866291216
Prominent metopic ridge 0.6630938323190118
Gastroesophageal reflux 0.6585520937414842
Non-midline cleft lip 0.6449268780089018
Nasal speech 0.6313016622763193
Convex nasal ridge 0.6222181851212644
Pointed chin 0.6222181851212644
Gait disturbance 0.617676446543737
Severe global developmental delay 0.6131347079662094
Language impairment 0.608592969388682
Misalignment of teeth 0.5949677536560996
Rocker bottom foot 0.5949677536560996
Cerebral atrophy 0.5949677536560996
Wide nasal base 0.5949677536560996
Bifid uvula 0.5904260150785721
Open mouth 0.5904260150785721
Coarctation of aorta 0.5904260150785721
Psychosis 0.5904260150785721
Cataract 0.5858842765010446
Full cheeks 0.5858842765010446
Failure to thrive 0.5858842765010446
Expressive language delay 0.5768007993459896
Conductive hearing impairment 0.5677173221909346
Hypothyroidism 0.5631755836134072
Sparse hair 0.5586338450358798
Short toe 0.5586338450358798
Vesicoureteral reflux 0.5495503678808248
Broad neck 0.5495503678808248
Prominent antihelix 0.5495503678808248
Stenosis of the external auditory canal 0.5450086293032973
Neurodevelopmental delay 0.5450086293032973
Short phalanx of finger 0.5313834135707148
Coarse facial features 0.5313834135707148
Breech presentation 0.5268416749931875
Cafe-au-lait spot 0.5222999364156599
Cutaneous finger syndactyly 0.5222999364156599
Abnormality of prenatal development or birth 0.5222999364156599
Renal hypoplasia 0.513216459260605
Postnatal microcephaly 0.513216459260605
Slender build 0.5086747206830775
Prominent occiput 0.50413298210555
Abnormality of the kidney 0.50413298210555
Underdeveloped nasal alae 0.50413298210555
Anxiety 0.50413298210555
Deep philtrum 0.4995912435280225
Redundant neck skin 0.4995912435280225
Postnatal growth retardation 0.4995912435280225
Caesarian section 0.4995912435280225
Narrow chest 0.49504950495049505
Talipes equinovalgus 0.48596602779544007
Visual impairment 0.48596602779544007
Broad thumb 0.48142428921791264
Atopic dermatitis 0.48142428921791264
Spotty hyperpigmentation 0.46779907348533023
Hypocalcemia 0.4632573349078027
Large for gestational age 0.45871559633027525
Short palm 0.44509038059769274
Generalized-onset seizure 0.44509038059769274
Impaired social interactions 0.44509038059769274
Widely spaced teeth 0.4405486420201653
Atrioventricular canal defect 0.43600690344263787
Long toe 0.43600690344263787
Flexion contracture 0.4269234262875829
Scrotal hypoplasia 0.4269234262875829
Postaxial hand polydactyly 0.42238168771005535
Macroglossia 0.4178399491325279
Holoprosencephaly 0.4178399491325279
Genu valgum 0.4178399491325279
Ectopic anus 0.4178399491325279
Exaggerated cupid's bow 0.4132982105550005
Broad hallux 0.40875647197747295
Renal agenesis 0.40875647197747295
Abnormality of the upper respiratory tract 0.40875647197747295
Febrile seizure (within the age range of 3 months to 6 years) 0.4042147333999455
Broad palm 0.39967299482241797
Abnormality of the palmar creases 0.39967299482241797
Sloping forehead 0.39967299482241797
Aortic valve stenosis 0.39513125624489054
Depressed nasal ridge 0.39513125624489054
Supernumerary nipple 0.39513125624489054
Prominent fingertip pads 0.39058951766736305
Cerebellar hypoplasia 0.39058951766736305
Congenital diaphragmatic hernia 0.3860477790898356
Prominent glabella 0.3860477790898356
Protruding tongue 0.38150604051230813
Prominent forehead 0.37696430193478064
Feeding difficulties 0.37696430193478064
Cardiomyopathy 0.37242256335725316
Multiple renal cysts 0.36788082477972567
Truncal obesity 0.36788082477972567
Retrognathia 0.36788082477972567
Generalized non-motor (absence) seizure 0.3633390862021982
Smooth philtrum 0.3633390862021982
Abnormal umbilicus morphology 0.3633390862021982
Capillary hemangioma 0.35879734762467075
Renal dysplasia 0.35879734762467075
Large earlobe 0.35425560904714326
Almond-shaped palpebral fissure 0.3451721318920883
Macrocephaly at birth 0.3451721318920883
Agenesis of corpus callosum 0.3451721318920883
Epileptic spasm 0.3406303933145608
Sparse and thin eyebrow 0.33608865473703337
Bilateral tonic-clonic seizure 0.33608865473703337
Barrel-shaped chest 0.33608865473703337
Abnormal vertebral morphology 0.3315469161595059
Inappropriate behavior 0.3315469161595059
Fine hair 0.3270051775819784
Intestinal malrotation 0.3270051775819784
Pectus carinatum 0.3270051775819784
Infantile axial hypotonia 0.3270051775819784
Submucous cleft hard palate 0.3224634390044509
Choanal atresia 0.3224634390044509
Horseshoe kidney 0.3224634390044509
Emotional lability 0.3224634390044509
Elbow flexion contracture 0.3224634390044509
Overgrowth 0.3224634390044509
Aplasia/Hypoplasia of the thymus 0.3179217004269234
Astigmatism 0.3179217004269234
Dysarthria 0.313379961849396
Decreased testicular size 0.313379961849396
Abnormality of the skin 0.313379961849396
Oligohydramnios 0.313379961849396
Abnormality of the outer ear 0.3088382232718685
Overlapping fingers 0.3088382232718685
Hammertoe 0.304296484694341
Pes cavus 0.304296484694341
Respiratory distress 0.304296484694341
Frontal upsweep of hair 0.2997547461168135
Abnormality of the dentition 0.2997547461168135
Intellectual disability, borderline 0.2997547461168135
Slender finger 0.29521300753928603
Abnormality of the helix 0.29521300753928603
Low hanging columella 0.29521300753928603
Hypoplastic nipples 0.29521300753928603
Microdontia 0.2906712689617586
Abnormality of vision 0.2906712689617586
Hyperextensibility of the finger joints 0.2906712689617586
Laryngomalacia 0.2906712689617586
Abnormal labia morphology 0.2861295303842311
Hypoplasia of the maxilla 0.2861295303842311
Ureteral atresia 0.2861295303842311
Oligodontia 0.2861295303842311
Hyperlordosis 0.2861295303842311
Aniridia 0.2861295303842311
Decreased fetal movement 0.2861295303842311
Long foot 0.2815877918067036
Coarse hair 0.2815877918067036
Long palpebral fissure 0.2815877918067036
Autism with high cognitive abilities 0.27704605322917614
Diastasis recti 0.27250431465164865
Large hands 0.2679625760741212
Optic atrophy 0.2679625760741212
Adducted thumb 0.2679625760741212
Delayed fine motor development 0.2679625760741212
Lissencephaly 0.26342083749659373
Carious teeth 0.26342083749659373
Abnormality of higher mental function 0.26342083749659373
Developmental regression 0.26342083749659373
Severe expressive language delay 0.25887909891906624
Ventriculomegaly 0.25887909891906624
Coloboma 0.25433736034153875
Abnormal aggressive, impulsive or violent behavior 0.24979562176401124
Hoarse voice 0.2452538831864838
Split hand 0.2452538831864838
Diabetes mellitus 0.2452538831864838
Hyperconvex nail 0.2452538831864838
Abnormal foot morphology 0.2452538831864838
Hypoplastic left heart 0.2452538831864838
Eczema 0.2452538831864838
Premature closure of fontanelles 0.2452538831864838
Hypoglycemia 0.24071214460895632
Prominent ear helix 0.24071214460895632
Asymmetry of the thorax 0.24071214460895632
Delayed puberty 0.23617040603142883
Sclerocornea 0.23617040603142883
Aplasia/Hypoplasia of the earlobes 0.23617040603142883
Abnormal erythrocyte morphology 0.23617040603142883
Dystonia 0.23617040603142883
Thin vermilion border 0.23617040603142883
Mild short stature 0.23617040603142883
Short metacarpal 0.23617040603142883
Macrodontia 0.23162866745390134
Toe syndactyly 0.23162866745390134
Broad foot 0.23162866745390134
Increased nuchal translucency 0.23162866745390134
Uplifted earlobe 0.22708692887637386
Skin dimple 0.22708692887637386
Asymmetry of the ears 0.22708692887637386
High forehead 0.22254519029884637
Generalized neonatal hypotonia 0.22254519029884637
Pulmonary hypoplasia 0.21800345172131894
Asthma 0.21800345172131894
Apraxia 0.21346171314379145
High pitched voice 0.21346171314379145
Cerebellar vermis hypoplasia 0.21346171314379145
Broad philtrum 0.21346171314379145
Spastic diplegia 0.21346171314379145
Edema of the dorsum of feet 0.21346171314379145
Omphalocele 0.20891997456626396
Broad face 0.20891997456626396
Abnormal dermatoglyphics 0.20891997456626396
Missing ribs 0.20891997456626396
Wide cranial sutures 0.20891997456626396
Hallux valgus 0.20437823598873647
Split foot 0.20437823598873647
Delayed eruption of teeth 0.20437823598873647
Abnormal thumb morphology 0.20437823598873647
Increased body weight 0.20437823598873647
Wide nose 0.20437823598873647
Dental malocclusion 0.19983649741120899
Glaucoma 0.19983649741120899
Abnormality of dental morphology 0.19983649741120899
Mitral regurgitation 0.19983649741120899
Abnormal immunoglobulin level 0.19983649741120899
Supernumerary ribs 0.19983649741120899
Generalized myoclonic seizure 0.19983649741120899
Abnormal social behavior 0.19983649741120899
Dandy-Walker malformation 0.19529475883368153
Torticollis 0.19529475883368153
Cutis marmorata 0.19529475883368153
Preeclampsia 0.19529475883368153
Deep palmar crease 0.19075302025615407
Pyloric stenosis 0.19075302025615407
Blue sclerae 0.19075302025615407
Small face 0.19075302025615407
Alveolar ridge overgrowth 0.19075302025615407
Shawl scrotum 0.19075302025615407
Self-mutilation 0.19075302025615407
Underdeveloped supraorbital ridges 0.19075302025615407
Abnormal thrombocyte morphology 0.19075302025615407
Decreased response to growth hormone stimuation test 0.19075302025615407
Conspicuously happy disposition 0.19075302025615407
Gingival overgrowth 0.18621128167862658
Small forehead 0.18621128167862658
Facial hemangioma 0.18621128167862658
Poor speech 0.18621128167862658
Dyslexia 0.18621128167862658
Neonatal asphyxia 0.18621128167862658
Postterm pregnancy 0.18621128167862658
Narrow nasal bridge 0.1816695431010991
Abnormality of dental enamel 0.1816695431010991
Periorbital fullness 0.1816695431010991
Abnormality of the uterus 0.1816695431010991
Hemivertebrae 0.1816695431010991
Edema 0.1816695431010991
Abnormal lung lobation 0.1816695431010991
Pierre-Robin sequence 0.1816695431010991
Multifactorial inheritance 0.1816695431010991
Self-injurious behavior 0.17712780452357163
Attached earlobe 0.17712780452357163
Short chin 0.17712780452357163
Drooling 0.17712780452357163
Bicuspid aortic valve 0.17712780452357163
Truncus arteriosus 0.17258606594604414
Echolalia 0.17258606594604414
Spina bifida occulta 0.17258606594604414
Deep plantar creases 0.17258606594604414
Abnormality of toe 0.17258606594604414
Incoordination 0.17258606594604414
Abnormal emotion/affect behavior 0.17258606594604414
Low-set, posteriorly rotated ears 0.17258606594604414
Long fingers 0.17258606594604414
Relative macrocephaly 0.17258606594604414
High, narrow palate 0.17258606594604414
Abnormal hair whorl 0.16804432736851668
Tricuspid regurgitation 0.16804432736851668
Ulnar deviation of the hand 0.16804432736851668
Lacrimal duct aplasia 0.16804432736851668
Intellectual disability, profound 0.16804432736851668
Inverted nipples 0.16804432736851668
Low frustration tolerance 0.16804432736851668
Hypertrichosis 0.16804432736851668
Hearing abnormality 0.16804432736851668
Muscle fiber atrophy 0.16804432736851668
Turricephaly 0.1635025887909892
Hand polydactyly 0.1635025887909892
T lymphocytopenia 0.1635025887909892
Short thumb 0.1635025887909892
Muscle weakness 0.1635025887909892
Prominent supraorbital ridges 0.1635025887909892
Polymicrogyria 0.1635025887909892
Poor fine motor coordination 0.1635025887909892
Decreased body weight 0.1635025887909892
Cubitus valgus 0.1635025887909892
Aganglionic megacolon 0.1589608502134617
Foot polydactyly 0.1589608502134617
Preaxial hand polydactyly 0.1589608502134617
Sleep apnea 0.1589608502134617
Abnormality of the columella 0.1589608502134617
Hyperplasia of midface 0.1589608502134617
Metatarsus adductus 0.1589608502134617
Facial hypotonia 0.1589608502134617
Limited hip movement 0.1589608502134617
Generalized tonic seizure 0.15441911163593425
Bruxism 0.15441911163593425
Ichthyosis 0.15441911163593425
Dysphagia 0.15441911163593425
Hand clenching 0.15441911163593425
Tremor 0.15441911163593425
Short 5th finger 0.15441911163593425
Psychomotor retardation 0.15441911163593425
Optic disc hypoplasia 0.14987737305840676
Abnormal retinal morphology 0.14987737305840676
Delayed cranial suture closure 0.14987737305840676
Abnormality of the nervous system 0.14987737305840676
Depressivity 0.14987737305840676
Short hallux 0.14987737305840676
Hydrocele testis 0.14987737305840676
Dysphasia 0.14987737305840676
Abnormality of the eye 0.14987737305840676
Aplasia/Hypoplasia of the thumb 0.14987737305840676
Schizophrenia 0.14987737305840676
Patent foramen ovale 0.14987737305840676
Abnormal eyebrow morphology 0.1453356344808793
Narrow naris 0.1453356344808793
Abnormality of skin pigmentation 0.1453356344808793
Hypertension 0.1453356344808793
Transposition of the great arteries 0.1453356344808793
Arachnoid cyst 0.1453356344808793
Hypopigmentation of hair 0.1453356344808793
Broad toe 0.1453356344808793
Ulnar deviation of finger 0.1453356344808793
Esotropia 0.1453356344808793
Short sternum 0.1407938959033518
Narrow foot 0.1407938959033518
Hypomimic face 0.1407938959033518
Edema of the dorsum of hands 0.1407938959033518
Postnatal macrocephaly 0.1407938959033518
Bilateral cryptorchidism 0.1407938959033518
Speech apraxia 0.1407938959033518
Hip dysplasia 0.13625215732582432
Abnormality of the palpebral fissures 0.13625215732582432
Recurrent urinary tract infections 0.13625215732582432
Gynecomastia 0.13625215732582432
Medial flaring of the eyebrow 0.13625215732582432
Thin ear helix 0.13625215732582432
Cystic hygroma 0.13625215732582432
Hirsutism 0.13625215732582432
Anal fistula 0.13625215732582432
Intention tremor 0.13171041874829686
Cavernous hemangioma 0.13171041874829686
Down-sloping shoulders 0.13171041874829686
Abnormal fear/anxiety-related behavior 0.13171041874829686
Unilateral renal agenesis 0.13171041874829686
Esophageal atresia 0.13171041874829686
Bilateral sensorineural hearing impairment 0.13171041874829686
Abnormality of the hip joint 0.13171041874829686
Hiatus hernia 0.12716868017076938
Abnormality of the forehead 0.12716868017076938
Prominent palatine ridges 0.12716868017076938
Recurrent otitis media 0.12716868017076938
Bilateral ptosis 0.12716868017076938
Abnormality of the ear 0.12716868017076938
Hepatomegaly 0.12716868017076938
Gastrostomy tube feeding in infancy 0.12716868017076938
Abnormality of the parathyroid gland 0.12716868017076938
Failure to thrive in infancy 0.12716868017076938
Glossoptosis 0.1226269415932419
Arrhythmia 0.1226269415932419
Abnormality of the female genitalia 0.1226269415932419
Retinoblastoma 0.1226269415932419
Blindness 0.1226269415932419
Widow's peak 0.1226269415932419
Palpebral edema 0.1226269415932419
Childhood-onset truncal obesity 0.1226269415932419
Generalized joint laxity 0.1226269415932419
Knee flexion contracture 0.1226269415932419
Infantile muscular hypotonia 0.1226269415932419
Hypertrophic cardiomyopathy 0.1226269415932419
Obsessive-compulsive behavior 0.1226269415932419
Pulmonary artery stenosis 0.1226269415932419
Abnormal eating behavior 0.1226269415932419
Psychomotor deterioration 0.1226269415932419
Abnormality of the antihelix 0.11808520301571442
Abnormal sacrum morphology 0.11808520301571442
Bifid scrotum 0.11808520301571442
Arnold-Chiari malformation 0.11808520301571442
Protuberant abdomen 0.11808520301571442
Polyphagia 0.11808520301571442
Focal impaired awareness seizure 0.11808520301571442
Abnormality of finger 0.11808520301571442
Microcornea 0.11808520301571442
Large forehead 0.11808520301571442
Jaundice 0.11808520301571442
Osteoporosis 0.11808520301571442
Cupped ear 0.11808520301571442
Brushfield spots 0.11808520301571442
Cerebellar hemisphere hypoplasia 0.11354346443818693
Long hallux 0.11354346443818693
Gray matter heterotopia 0.11354346443818693
Stridor 0.11354346443818693
Hypopigmentation of the skin 0.11354346443818693
Nail dysplasia 0.11354346443818693
Abnormality of the liver 0.11354346443818693
Duodenal atresia 0.11354346443818693
Neurological speech impairment 0.11354346443818693
Enlarged kidney 0.11354346443818693
Hemangioma 0.11354346443818693
Oral cleft 0.11354346443818693
Bilateral talipes equinovarus 0.11354346443818693
Dilated cardiomyopathy 0.11354346443818693
Mild microcephaly 0.11354346443818693
Chorioretinitis 0.11354346443818693
Precocious puberty in females 0.10900172586065947
Depressed nasal tip 0.10900172586065947
Ankyloglossia 0.10900172586065947
Ureteral duplication 0.10900172586065947
Abnormal hair pattern 0.10900172586065947
Arthritis 0.10900172586065947
Tracheoesophageal fistula 0.10900172586065947
Narrow nasal ridge 0.10900172586065947
Broad finger 0.10900172586065947
Unilateral ptosis 0.10900172586065947
Microretrognathia 0.10900172586065947
Few cafe-au-lait spots 0.10900172586065947
Cutis laxa 0.10900172586065947
Severe short stature 0.10900172586065947
Precocious puberty 0.10900172586065947
Agitation 0.10900172586065947
Abnormality of the cardiovascular system 0.10900172586065947
Abnormality of the septum pellucidum 0.10900172586065947
Absent nipple 0.10445998728313198
Congenital nystagmus 0.10445998728313198
Abnormality of the voice 0.10445998728313198
Tics 0.10445998728313198
Median cleft lip 0.10445998728313198
Unilateral deafness 0.10445998728313198
Vertebral fusion 0.10445998728313198
Meningocele 0.10445998728313198
Sparse eyelashes 0.10445998728313198
Aplasia/Hypoplasia of metatarsal bones 0.10445998728313198
Aortic regurgitation 0.10445998728313198
Aplasia/Hypoplasia of the tongue 0.10445998728313198
Renal cyst 0.10445998728313198
Focal-onset seizure 0.10445998728313198
Abnormal aortic morphology 0.10445998728313198
Anterior creases of earlobe 0.09991824870560449
Abnormality of the male genitalia 0.09991824870560449
Myoclonus 0.09991824870560449
Abnormality of the ribs 0.09991824870560449
Abnormal palate morphology 0.09991824870560449
Radioulnar synostosis 0.09991824870560449
Increased number of teeth 0.09991824870560449
Soft skin 0.09991824870560449
Dyscalculia 0.09991824870560449
Renal neoplasm 0.09991824870560449
Duane anomaly 0.09991824870560449
Adrenal hypoplasia 0.09991824870560449
Receptive language delay 0.09991824870560449
Poor motor coordination 0.09991824870560449
Poor coordination 0.09991824870560449
Talipes 0.09991824870560449
Progressive microcephaly 0.09991824870560449
Recurrent hand flapping 0.09991824870560449
Epileptic encephalopathy 0.09991824870560449
Hypogonadism 0.09537651012807703
Infra-orbital crease 0.09537651012807703
Chordee 0.09537651012807703
Abnormality of the gallbladder 0.09537651012807703
Abnormality of the philtrum 0.09537651012807703
Hypsarrhythmia 0.09537651012807703
Aplasia/Hypoplasia of the tibia 0.09537651012807703
Hemiplegia 0.09537651012807703
Speech articulation difficulties 0.09537651012807703
Clitoral hypertrophy 0.09537651012807703
Encephalopathy 0.09537651012807703
Thrombocytopenia 0.09537651012807703
Cerebellar atrophy 0.09537651012807703
Aplasia/Hypoplasia of the corpus callosum 0.09537651012807703
Arthrogryposis multiplex congenita 0.09537651012807703
Congenital hip dislocation 0.09537651012807703
Arnold-Chiari type I malformation 0.09537651012807703
Posterior plagiocephaly 0.09537651012807703
Dysgraphia 0.09537651012807703
Moderate expressive language delay 0.09537651012807703
Pain insensitivity 0.09537651012807703
Cerebral palsy 0.09537651012807703
Abnormality of coordination 0.09537651012807703
Fullness of paranasal tissue 0.09537651012807703
Localized hirsutism 0.09083477155054955
Abnormal iris pigmentation 0.09083477155054955
Abnormality of the hand 0.09083477155054955
Sparse lateral eyebrow 0.09083477155054955
Anophthalmia 0.09083477155054955
Crumpled ear 0.09083477155054955
Aplasia of the fingers 0.09083477155054955
Aplasia/Hypoplasia involving the metacarpal bones 0.09083477155054955
Anterior hypopituitarism 0.09083477155054955
Abnormality of the nose 0.09083477155054955
Pulmonary arterial hypertension 0.09083477155054955
High myopia 0.09083477155054955
Velopharyngeal insufficiency 0.09083477155054955
Secundum atrial septal defect 0.09083477155054955
Sparse scalp hair 0.09083477155054955
Cleft soft palate 0.09083477155054955
Dental crowding 0.09083477155054955
Muscular hypotonia of the trunk 0.09083477155054955
Wrist flexion contracture 0.09083477155054955
Short finger 0.09083477155054955
Upper limb undergrowth 0.09083477155054955
Abnormal ventricular septum morphology 0.09083477155054955
Polysplenia 0.09083477155054955
Neurodevelopmental abnormality 0.09083477155054955
Abnormality of brain morphology 0.09083477155054955
Coxa valga 0.09083477155054955
Limitation of knee mobility 0.09083477155054955
Triphalangeal thumb 0.08629303297302207
Accelerated skeletal maturation 0.08629303297302207
Leukodystrophy 0.08629303297302207
Thick nasal alae 0.08629303297302207
Abnormality of upper lip 0.08629303297302207
Disproportionate short-limb short stature 0.08629303297302207
Optic nerve coloboma 0.08629303297302207
Curly eyelashes 0.08629303297302207
Bilateral single transverse palmar creases 0.08629303297302207
Dry skin 0.08629303297302207
Periventricular heterotopia 0.08629303297302207
Single umbilical artery 0.08629303297302207
Kyphoscoliosis 0.08629303297302207
Poor eye contact 0.08629303297302207
Hypogonadotropic hypogonadism 0.08629303297302207
Heart murmur 0.08629303297302207
Enlarged naris 0.08629303297302207
Overweight 0.08629303297302207
Thin ribs 0.08629303297302207
Thickened ears 0.0817512943954946
Vertebral segmentation defect 0.0817512943954946
Aplasia cutis congenita of scalp 0.0817512943954946
Abnormal CNS myelination 0.0817512943954946
Pili torti 0.0817512943954946
Abnormality of the nail 0.0817512943954946
Abnormality of earlobe 0.0817512943954946
Asymmetry of the mouth 0.0817512943954946
Disproportionate tall stature 0.0817512943954946
Rhizomelic arm shortening 0.0817512943954946
Gait imbalance 0.0817512943954946
Monocular strabismus 0.0817512943954946
Dextrocardia 0.0817512943954946
Abnormal esophagus morphology 0.0817512943954946
Overfolded helix 0.0817512943954946
Thoracolumbar scoliosis 0.0817512943954946
Cleft lip 0.0817512943954946
Developmental cataract 0.0817512943954946
Anteriorly placed anus 0.0817512943954946
Clinodactyly 0.0817512943954946
Anomalous pulmonary venous return 0.07720955581796712
Iris atrophy 0.07720955581796712
Accessory oral frenulum 0.07720955581796712
Nephrolithiasis 0.07720955581796712
Abnormality of the mouth 0.07720955581796712
Abnormality of the vasculature 0.07720955581796712
Bifid nasal tip 0.07720955581796712
Long phalanx of finger 0.07720955581796712
Short nail 0.07720955581796712
Avascular necrosis of the capital femoral epiphysis 0.07720955581796712
Abnormality of the chin 0.07720955581796712
Rieger anomaly 0.07720955581796712
Hypoplasia of the radius 0.07720955581796712
Abnormality of the nasal tip 0.07720955581796712
Postaxial polydactyly 0.07720955581796712
Congenital muscular torticollis 0.07720955581796712
Short femur 0.07720955581796712
Deviated nasal septum 0.07720955581796712
Long nose 0.07720955581796712
Gait ataxia 0.07720955581796712
Hyperreflexia 0.07720955581796712
Memory impairment 0.07720955581796712
Cardiomegaly 0.07720955581796712
Dimple chin 0.07720955581796712
Mild expressive language delay 0.07720955581796712
Violent behavior 0.07720955581796712
Small placenta 0.07720955581796712
Chronic constipation 0.07720955581796712
Cat cry 0.07720955581796712
Antepartum hemorrhage 0.07720955581796712
Primary amenorrhea 0.07266781724043965
Absence of the sacrum 0.07266781724043965
Fragile nails 0.07266781724043965
Cyclopia 0.07266781724043965
Abnormality of the ureter 0.07266781724043965
Thin skin 0.07266781724043965
Abnormality of the respiratory system 0.07266781724043965
Anonychia 0.07266781724043965
Abnormality of the lower limb 0.07266781724043965
Hyperextensibility at elbow 0.07266781724043965
Epicanthus inversus 0.07266781724043965
Abnormal nasal bridge morphology 0.07266781724043965
Syringomyelia 0.07266781724043965
Mitral stenosis 0.07266781724043965
Thoracic scoliosis 0.07266781724043965
Oculomotor apraxia 0.07266781724043965
Tip-toe gait 0.07266781724043965
Splenomegaly 0.07266781724043965
Exotropia 0.07266781724043965
Amblyopia 0.07266781724043965
Abnormal size of the palpebral fissures 0.07266781724043965
Lumbar hyperlordosis 0.07266781724043965
Multicystic kidney dysplasia 0.07266781724043965
Ascites 0.07266781724043965
Tented upper lip vermilion 0.07266781724043965
Unilateral cleft lip 0.07266781724043965
Bipolar affective disorder 0.07266781724043965
Delayed social development 0.07266781724043965
Abnormal placenta morphology 0.07266781724043965
Osteochondroma 0.07266781724043965
Aplasia/Hypoplasia of the cerebral white matter 0.07266781724043965
Impaired pain sensation 0.06812607866291216
Clubbing 0.06812607866291216
Rod-cone dystrophy 0.06812607866291216
Abnormally low-pitched voice 0.06812607866291216
White forelock 0.06812607866291216
Biliary atresia 0.06812607866291216
Aplasia/Hypoplasia of the ulna 0.06812607866291216
Single ventricle 0.06812607866291216
Striae distensae 0.06812607866291216
Absent toe 0.06812607866291216
Secondary amenorrhea 0.06812607866291216
Branchial cyst 0.06812607866291216
Abnormal thorax morphology 0.06812607866291216
Moderate postnatal growth retardation 0.06812607866291216
Hypercalcemia 0.06812607866291216
Enuresis nocturna 0.06812607866291216
Broad-based gait 0.06812607866291216
Partial agenesis of the corpus callosum 0.06812607866291216
Pachygyria 0.06812607866291216
Periventricular leukomalacia 0.06812607866291216
Myopathy 0.06812607866291216
Chronic otitis media 0.06812607866291216
Supravalvular aortic stenosis 0.06812607866291216
Optic nerve hypoplasia 0.06812607866291216
Abnormal location of ears 0.06812607866291216
Phimosis 0.06812607866291216
Infantile spasms 0.06812607866291216
Hypoplastic pelvis 0.06812607866291216
Long neck 0.06358434008538469
Ridged cranial sutures 0.06358434008538469
Abnormality of the nasal septum 0.06358434008538469
Urinary incontinence 0.06358434008538469
Headache 0.06358434008538469
Abnormality of the mandible 0.06358434008538469
Postaxial foot polydactyly 0.06358434008538469
Abnormal nipple morphology 0.06358434008538469
Aqueductal stenosis 0.06358434008538469
Facial palsy 0.06358434008538469
Abnormality of the antitragus 0.06358434008538469
Ectopia pupillae 0.06358434008538469
Hyperextensibility of the knee 0.06358434008538469
Abnormal cerebellum morphology 0.06358434008538469
Moderately short stature 0.06358434008538469
Aphasia 0.06358434008538469
Mild intrauterine growth retardation 0.06358434008538469
Sleep-wake cycle disturbance 0.06358434008538469
Difficulty walking 0.06358434008538469
Lower limb spasticity 0.06358434008538469
Restrictive behavior 0.06358434008538469
Proportionate tall stature 0.06358434008538469
Cervical C2/C3 vertebral fusion 0.06358434008538469
Nasogastric tube feeding in infancy 0.06358434008538469
Small thenar eminence 0.06358434008538469
Type I diabetes mellitus 0.06358434008538469
Lymphedema 0.06358434008538469
Generalized ichthyosis 0.06358434008538469
Short digit 0.06358434008538469
Recurrent respiratory infections 0.06358434008538469
Growth abnormality 0.06358434008538469
Pes valgus 0.06358434008538469
Interrupted aortic arch 0.06358434008538469
Anencephaly 0.06358434008538469
Abnormal cranial nerve morphology 0.06358434008538469
Limb undergrowth 0.06358434008538469
Streak ovary 0.06358434008538469
Absent testis 0.05904260150785721
Macroorchidism 0.05904260150785721
Abnormality of the gingiva 0.05904260150785721
Peters anomaly 0.05904260150785721
Hip contracture 0.05904260150785721
Abnormality of the tongue 0.05904260150785721
Hyperextensibility at wrists 0.05904260150785721
Keratoconus 0.05904260150785721
2-3 toe cutaneous syndactyly 0.05904260150785721
Meckel diverticulum 0.05904260150785721
Congenital sensorineural hearing impairment 0.05904260150785721
Bilateral cleft lip and palate 0.05904260150785721
Mild postnatal growth retardation 0.05904260150785721
Abnormality of the anus 0.05904260150785721
Multiple cafe-au-lait spots 0.05904260150785721
Large fontanelles 0.05904260150785721
Premature ovarian insufficiency 0.05904260150785721
Abnormality of mesentery morphology 0.05904260150785721
Mitral valve prolapse 0.05904260150785721
Wide anterior fontanel 0.05904260150785721
Abnormality of movement 0.05904260150785721
Vomiting 0.05904260150785721
Abnormal corpus callosum morphology 0.05904260150785721
Clubbing of fingers 0.05904260150785721
Joint hyperflexibility 0.05904260150785721
Anteverted ears 0.05904260150785721
Abnormal joint morphology 0.054500862930329734
Single median maxillary incisor 0.054500862930329734
Aplasia of the uterus 0.054500862930329734
Vaginal atresia 0.054500862930329734
Precocious puberty in males 0.054500862930329734
Heterochromia iridis 0.054500862930329734
Scapular winging 0.054500862930329734
Cleft of alveolar ridge of maxilla 0.054500862930329734
Furrowed tongue 0.054500862930329734
Atresia of the external auditory canal 0.054500862930329734
Acne 0.054500862930329734
Tricuspid stenosis 0.054500862930329734
Facial hirsutism 0.054500862930329734
Elbow dislocation 0.054500862930329734
Tetraplegia 0.054500862930329734
Rhizomelic leg shortening 0.054500862930329734
Athetosis 0.054500862930329734
Aplasia/Hypoplasia of the uvula 0.054500862930329734
Abnormality of the genital system 0.054500862930329734
Lower limb undergrowth 0.054500862930329734
Morphological central nervous system abnormality 0.054500862930329734
Broad nail 0.054500862930329734
Cerebral visual impairment 0.054500862930329734
Inappropriate laughter 0.054500862930329734
Tracheomalacia 0.054500862930329734
Bilateral conductive hearing impairment 0.054500862930329734
Polycystic kidney dysplasia 0.054500862930329734
Severe postnatal growth retardation 0.054500862930329734
Distal arthrogryposis 0.054500862930329734
Cleft upper lip 0.054500862930329734
Abnormality of the skeletal system 0.054500862930329734
Perimembranous ventricular septal defect 0.054500862930329734
Madelung deformity 0.054500862930329734
Abnormality of the nares 0.054500862930329734
Toe clinodactyly 0.054500862930329734
Impulsivity 0.054500862930329734
Horizontal eyebrow 0.054500862930329734
Palpebral fissure narrowing on adduction 0.054500862930329734
Type II diabetes mellitus 0.054500862930329734
Cortical dysplasia 0.054500862930329734
Lethargy 0.054500862930329734
Parathyroid agenesis 0.054500862930329734
Abnormal delivery 0.054500862930329734
Weak cry 0.054500862930329734
Neoplasm of the skin 0.049959124352802246
Aplasia/Hypoplasia of the breasts 0.049959124352802246
Brittle hair 0.049959124352802246
Enuresis 0.049959124352802246
Short nasal septum 0.049959124352802246
Limited pronation/supination of forearm 0.049959124352802246
Preaxial foot polydactyly 0.049959124352802246
Abnormal eyelid morphology 0.049959124352802246
Episodic vomiting 0.049959124352802246
Abnormality of globe size 0.049959124352802246
Pulmonary insufficiency 0.049959124352802246
Abnormality of the cerebral white matter 0.049959124352802246
Anisocoria 0.049959124352802246
Spina bifida 0.049959124352802246
Abnormality of the bladder 0.049959124352802246
Neonatal respiratory distress 0.049959124352802246
Hyperkeratosis 0.049959124352802246
Radial deviation of the hand 0.049959124352802246
Delayed CNS myelination 0.049959124352802246
Unsteady gait 0.049959124352802246
Congenital hypothyroidism 0.049959124352802246
Hyperpigmentation of the skin 0.049959124352802246
Retinal detachment 0.049959124352802246
Skeletal dysplasia 0.049959124352802246
Frequent falls 0.049959124352802246
Communicating hydrocephalus 0.049959124352802246
Poor gross motor coordination 0.049959124352802246
Opisthotonus 0.049959124352802246
High hypermetropia 0.049959124352802246
External ear malformation 0.049959124352802246
Short thorax 0.049959124352802246
Mild conductive hearing impairment 0.049959124352802246
Retinal coloboma 0.049959124352802246
Dilation of lateral ventricles 0.049959124352802246
Abnormal respiratory system physiology 0.049959124352802246
Severe intrauterine growth retardation 0.049959124352802246
Motor tics 0.049959124352802246
Polydactyly 0.049959124352802246
Mesomelic arm shortening 0.049959124352802246
Narrow pelvis bone 0.049959124352802246
Aplasia of the premaxilla 0.049959124352802246
Hypertrophy of the urinary bladder 0.049959124352802246
Abnormal pupil morphology 0.04541738577527477
Truncal ataxia 0.04541738577527477
Hyperextensible skin 0.04541738577527477
Neoplasm of the colon 0.04541738577527477
Lipodystrophy 0.04541738577527477
Aplasia of the nose 0.04541738577527477
Abnormality of hair pigmentation 0.04541738577527477
Short hard palate 0.04541738577527477
Abnormality of the musculature 0.04541738577527477
Pleural effusion 0.04541738577527477
Finger joint hypermobility 0.04541738577527477
Hypoparathyroidism 0.04541738577527477
Broad columella 0.04541738577527477
Posterior helix pit 0.04541738577527477
Diaphragmatic eventration 0.04541738577527477
Clumsiness 0.04541738577527477
Abnormal stomach morphology 0.04541738577527477
Spastic paraparesis 0.04541738577527477
Early onset of sexual maturation 0.04541738577527477
2-3 finger syndactyly 0.04541738577527477
Ambiguous genitalia 0.04541738577527477
Abnormal mitral valve morphology 0.04541738577527477
Median cleft palate 0.04541738577527477
Thoracic kyphosis 0.04541738577527477
Fetal cystic hygroma 0.04541738577527477
Clinodactyly of the 5th toe 0.04541738577527477
Dysplastic corpus callosum 0.04541738577527477
Patent ductus arteriosus after birth at term 0.04541738577527477
Tethered cord 0.04541738577527477
Knee dislocation 0.04541738577527477
Abnormal testis morphology 0.04541738577527477
Dilatation of the renal pelvis 0.04541738577527477
Postural instability 0.04541738577527477
Developmental glaucoma 0.04541738577527477
Otitis media 0.04541738577527477
Cerebral calcification 0.04541738577527477
Thick vermilion border 0.04541738577527477
Cholestasis 0.04541738577527477
Hydrops fetalis 0.04541738577527477
Oppositional defiant disorder 0.04541738577527477
Aplasia of the ovary 0.04541738577527477
Cerebellar vermis atrophy 0.04541738577527477
Hypoplastic ilia 0.04541738577527477
Abnormal ventriculoarterial connection 0.04541738577527477
Hypoplastic female external genitalia 0.04541738577527477
Thick nasal septum 0.0408756471977473
Aplasia/Hypoplasia of the abdominal wall musculature 0.0408756471977473
Slow-growing hair 0.0408756471977473
Abnormality of the small intestine 0.0408756471977473
Ectropion 0.0408756471977473
Eyelid coloboma 0.0408756471977473
Aplasia/Hypoplasia of the patella 0.0408756471977473
Neurofibromas 0.0408756471977473
Abnormality of the endocrine system 0.0408756471977473
Absent septum pellucidum 0.0408756471977473
Abnormal lung morphology 0.0408756471977473
Enlarged cisterna magna 0.0408756471977473
Abnormal shoulder morphology 0.0408756471977473
Abnormality iris morphology 0.0408756471977473
Symphalangism affecting the phalanges of the hand 0.0408756471977473
Hemihypertrophy 0.0408756471977473
Cleft mandible 0.0408756471977473
Ovarian cyst 0.0408756471977473
Hypercholesterolemia 0.0408756471977473
Urethral stenosis 0.0408756471977473
Radial deviation of finger 0.0408756471977473
Skeletal muscle atrophy 0.0408756471977473
Abnormal renal morphology 0.0408756471977473
Lack of peer relationships 0.0408756471977473
Mixed hearing impairment 0.0408756471977473
Proteinuria 0.0408756471977473
Clinodactyly of the 4th toe 0.0408756471977473
Lower limb hypertonia 0.0408756471977473
Apnea 0.0408756471977473
Neonatal hypoglycemia 0.0408756471977473
Hyperopic astigmatism 0.0408756471977473
Penile hypospadias 0.0408756471977473
Craniofacial asymmetry 0.0408756471977473
3-4 finger syndactyly 0.0408756471977473
Bilateral tonic-clonic seizure with focal onset 0.0408756471977473
Cystic renal dysplasia 0.0408756471977473
Repetitive compulsive behavior 0.0408756471977473
Congenital ptosis 0.0408756471977473
Severe receptive language delay 0.0408756471977473
Median cleft lip and palate 0.0408756471977473
Profound global developmental delay 0.0408756471977473
Prolonged QT interval 0.0408756471977473
Unilateral cryptorchidism 0.0408756471977473
Severe hearing impairment 0.0408756471977473
Narrow palpebral fissure 0.0408756471977473
Sudden cardiac death 0.0408756471977473
Delayed ability to walk 0.0408756471977473
Partial duplication of the distal phalanx of the hallux 0.0408756471977473
Diminished ability to concentrate 0.0408756471977473
Thyroglossal cyst 0.036333908620219825
Photophobia 0.036333908620219825
Mesomelic leg shortening 0.036333908620219825
Aplasia of the phalanges of the hand 0.036333908620219825
Abnormality of the periorbital region 0.036333908620219825
Multiple lipomas 0.036333908620219825
Abnormal anterior chamber morphology 0.036333908620219825
Abnormal abdomen morphology 0.036333908620219825
Resting tremor 0.036333908620219825
Broad phalanges of the hand 0.036333908620219825
Megalocornea 0.036333908620219825
Abnormality of the pancreas 0.036333908620219825
Pedal edema 0.036333908620219825
Nevus 0.036333908620219825
Hyperthyroidism 0.036333908620219825
Abnormal duodenum morphology 0.036333908620219825
Genu varum 0.036333908620219825
Asymmetry of the nares 0.036333908620219825
Chorea 0.036333908620219825
Annular pancreas 0.036333908620219825
Abnormal vagina morphology 0.036333908620219825
Flat forehead 0.036333908620219825
Asymmetry of the mandible 0.036333908620219825
Skin tags 0.036333908620219825
Abnormality of the metacarpal bones 0.036333908620219825
Duodenal stenosis 0.036333908620219825
Acanthosis nigricans 0.036333908620219825
Recurrent lower respiratory tract infections 0.036333908620219825
Abnormality of male external genitalia 0.036333908620219825
Overfriendliness 0.036333908620219825
Abnormally folded helix 0.036333908620219825
Impaired ability to form peer relationships 0.036333908620219825
Choanal stenosis 0.036333908620219825
Hyperacusis 0.036333908620219825
Periauricular skin pits 0.036333908620219825
Glandular hypospadias 0.036333908620219825
Corpus callosum atrophy 0.036333908620219825
Abnormality of the vertebral column 0.036333908620219825
Moderate sensorineural hearing impairment 0.036333908620219825
Hemifacial hypoplasia 0.036333908620219825
Natal tooth 0.036333908620219825
Square face 0.036333908620219825
Limb hypertonia 0.036333908620219825
Hypoplastic toenails 0.036333908620219825
Moderate intrauterine growth retardation 0.036333908620219825
Poor suck 0.036333908620219825
Triangular mouth 0.036333908620219825
Spastic tetraparesis 0.036333908620219825
Mild fetal ventriculomegaly 0.036333908620219825
Wormian bones 0.036333908620219825
Impaired visuospatial constructive cognition 0.036333908620219825
Ectopic kidney 0.036333908620219825
Gastroschisis 0.036333908620219825
Irritability 0.036333908620219825
Ectrodactyly 0.036333908620219825
Positional foot deformity 0.036333908620219825
Ambiguous genitalia, male 0.036333908620219825
Cerebellar cyst 0.036333908620219825
Situs inversus totalis 0.036333908620219825
Hyperinsulinemia 0.036333908620219825
Renal insufficiency 0.036333908620219825
Oral-pharyngeal dysphagia 0.036333908620219825
Abnormal sternum morphology 0.036333908620219825
Short corpus callosum 0.036333908620219825
Bruising susceptibility 0.036333908620219825
Myelomeningocele 0.036333908620219825
Elevated serum creatine kinase 0.036333908620219825
Gonadal dysgenesis 0.036333908620219825
Sleep terror 0.036333908620219825
Pulmonary artery hypoplasia 0.036333908620219825
Abnormal ossification of the pubic bone 0.036333908620219825
Abnormal shape of the occiput 0.036333908620219825
Abnormality of blood and blood-forming tissues 0.036333908620219825
Persistence of primary teeth 0.031792170042692344
Abnormal skull morphology 0.031792170042692344
Abdominal situs inversus 0.031792170042692344
Fused labia minora 0.031792170042692344
Hyperhidrosis 0.031792170042692344
Varicose veins 0.031792170042692344
Malabsorption 0.031792170042692344
Bifid tongue 0.031792170042692344
Platyspondyly 0.031792170042692344
Abnormality of hair texture 0.031792170042692344
Anosmia 0.031792170042692344
Small hypothenar eminence 0.031792170042692344
Abnormality of the hip bone 0.031792170042692344
Abnormal finger phalanx morphology 0.031792170042692344
Prolonged neonatal jaundice 0.031792170042692344
Patellar dislocation 0.031792170042692344
Concave nail 0.031792170042692344
Abnormality of skull ossification 0.031792170042692344
Abnormality of calvarial morphology 0.031792170042692344
Abnormal circulating lipid concentration 0.031792170042692344
Prominent superficial blood vessels 0.031792170042692344
Abnormal muscle tone 0.031792170042692344
Congenital bilateral ptosis 0.031792170042692344
Tibial bowing 0.031792170042692344
Anterior pituitary agenesis 0.031792170042692344
Femoral bowing 0.031792170042692344
Hypoplasia of teeth 0.031792170042692344
Hepatic steatosis 0.031792170042692344
Absent nasal septal cartilage 0.031792170042692344
Short long bone 0.031792170042692344
Oligospermia 0.031792170042692344
Poor appetite 0.031792170042692344
Abnormality of extrapyramidal motor function 0.031792170042692344
Thick hair 0.031792170042692344
Increased laxity of fingers 0.031792170042692344
Short 4th metacarpal 0.031792170042692344
Restlessness 0.031792170042692344
Cystinuria 0.031792170042692344
Supraventricular tachycardia 0.031792170042692344
Hypoplasia of dental enamel 0.031792170042692344
Eversion of lateral third of lower eyelids 0.031792170042692344
Aplasia/Hypoplasia of the clavicles 0.031792170042692344
Short lingual frenulum 0.031792170042692344
Narrow face 0.031792170042692344
Parietal foramina 0.031792170042692344
Hitchhiker thumb 0.031792170042692344
Mild receptive language delay 0.031792170042692344
Anemia 0.031792170042692344
Peripheral neuropathy 0.031792170042692344
Entropion 0.031792170042692344
Moderate receptive language delay 0.031792170042692344
Submucous cleft soft palate 0.031792170042692344
Small earlobe 0.031792170042692344
Diffuse cerebellar atrophy 0.031792170042692344
Hypodysplasia of the corpus callosum 0.031792170042692344
Unilateral cleft palate 0.031792170042692344
Abnormal atrial septum morphology 0.031792170042692344
Preaxial polydactyly 0.031792170042692344
Abnormal pyramidal sign 0.031792170042692344
Fetal pyelectasis 0.031792170042692344
Male hypogonadism 0.031792170042692344
Prominent crus of helix 0.031792170042692344
Large fleshy ears 0.031792170042692344
Anorexia 0.031792170042692344
Syndactyly 0.031792170042692344
Aplasia/Hypoplasia of the cerebellar vermis 0.031792170042692344
Conotruncal defect 0.031792170042692344
Abnormality of the head 0.031792170042692344
Cerebral cortical atrophy 0.031792170042692344
Patent ductus arteriosus after premature birth 0.031792170042692344
Acute lymphoblastic leukemia 0.031792170042692344
Abnormality of lower lip 0.031792170042692344
Aplasia/Hypoplasia of the hallux 0.031792170042692344
Hyperkinetic movements 0.031792170042692344
Congenital miosis 0.031792170042692344
Abnormality of the optic nerve 0.031792170042692344
Right ventricular cardiomyopathy 0.031792170042692344
Abnormality of limbs 0.031792170042692344
Camptodactyly 0.031792170042692344
Thick corpus callosum 0.031792170042692344
Abnormal retinal vascular morphology 0.031792170042692344
Hand monodactyly 0.031792170042692344
Myopic astigmatism 0.031792170042692344
Abnormality of the abdominal wall 0.031792170042692344
Aplasia of metacarpal bones 0.031792170042692344
Short umbilical cord 0.031792170042692344
Pregnancy exposure 0.031792170042692344
Abnormality of the hypothalamus-pituitary axis 0.027250431465164867
Ebstein anomaly of the tricuspid valve 0.027250431465164867
Metacarpal synostosis 0.027250431465164867
Abnormality of the nasal alae 0.027250431465164867
Axillary freckling 0.027250431465164867
Abnormality of the midface 0.027250431465164867
Abnormality of the upper limb 0.027250431465164867
Frontal balding 0.027250431465164867
Aplasia/hypoplasia of the humerus 0.027250431465164867
Multiple joint dislocation 0.027250431465164867
Abnormality of the spleen 0.027250431465164867
Hypoplastic scapulae 0.027250431465164867
Increased serum lactate 0.027250431465164867
Abnormal cornea morphology 0.027250431465164867
Urethral valve 0.027250431465164867
Myotonia 0.027250431465164867
Abnormal clavicle morphology 0.027250431465164867
Simple febrile seizure 0.027250431465164867
Nephroblastoma 0.027250431465164867
Pectus excavatum of inferior sternum 0.027250431465164867
Malar prominence 0.027250431465164867
Abnormality of the adrenal glands 0.027250431465164867
Anotia 0.027250431465164867
Abnormality of the middle ear ossicles 0.027250431465164867
Delayed eruption of primary teeth 0.027250431465164867
Hypoplastic nasal bridge 0.027250431465164867
Macrodontia of permanent maxillary central incisor 0.027250431465164867
Hypopigmented skin patches 0.027250431465164867
Abnormality of the urinary system 0.027250431465164867
Abnormality of eye movement 0.027250431465164867
Sagittal craniosynostosis 0.027250431465164867
Rhizomelia 0.027250431465164867
Oromotor apraxia 0.027250431465164867
Porencephalic cyst 0.027250431465164867
Vascular dilatation 0.027250431465164867
Developmental stagnation 0.027250431465164867
Spastic tetraplegia 0.027250431465164867
Infantile encephalopathy 0.027250431465164867
Abnormality of pelvic girdle bone morphology 0.027250431465164867
Status epilepticus 0.027250431465164867
Moyamoya phenomenon 0.027250431465164867
Alopecia 0.027250431465164867
Broad lateral eyebrow 0.027250431465164867
Inferior vermis hypoplasia 0.027250431465164867
Abnormal cardiac septum morphology 0.027250431465164867
Lower limb hyperreflexia 0.027250431465164867
Delayed ossification of carpal bones 0.027250431465164867
Achilles tendon contracture 0.027250431465164867
Epiphyseal dysplasia 0.027250431465164867
Impaired mastication 0.027250431465164867
Excessive daytime somnolence 0.027250431465164867
Bowel incontinence 0.027250431465164867
Toenail dysplasia 0.027250431465164867
Shyness 0.027250431465164867
Chronic kidney disease 0.027250431465164867
Atonic seizure 0.027250431465164867
Retinal dystrophy 0.027250431465164867
Abnormally large globe 0.027250431465164867
Anhidrotic ectodermal dysplasia 0.027250431465164867
Insomnia 0.027250431465164867
Unilateral narrow palpebral fissure 0.027250431465164867
Thickened nuchal skin fold 0.027250431465164867
Muscular dystrophy 0.027250431465164867
Weight loss 0.027250431465164867
Congenital conductive hearing impairment 0.027250431465164867
Metopic synostosis 0.027250431465164867
Short middle phalanx of finger 0.027250431465164867
Periorbital edema 0.027250431465164867
Prelingual sensorineural hearing impairment 0.027250431465164867
Easy fatigability 0.027250431465164867
Pelvic kidney 0.027250431465164867
Abnormal external genitalia 0.027250431465164867
Profound sensorineural hearing impairment 0.027250431465164867
Abnormality of the genitourinary system 0.027250431465164867
Tricuspid atresia 0.027250431465164867
Cyanosis 0.027250431465164867
Chorioretinal coloboma 0.027250431465164867
Breast carcinoma 0.027250431465164867
Immunodeficiency 0.027250431465164867
Hypergonadotropic hypogonadism 0.027250431465164867
Abnormal hand morphology 0.027250431465164867
Peripheral pulmonary artery stenosis 0.027250431465164867
Nevus flammeus 0.027250431465164867
Psychotic episodes 0.027250431465164867
Perisylvian polymicrogyria 0.027250431465164867
Congestive heart failure 0.027250431465164867
Colpocephaly 0.027250431465164867
Anorectal anomaly 0.027250431465164867
Stereotypical hand wringing 0.027250431465164867
Cleft hard palate 0.027250431465164867
Toe walking 0.027250431465164867
Ventricular arrhythmia 0.027250431465164867
Flat face 0.027250431465164867
Slender long bone 0.027250431465164867
Extra fontanelles 0.027250431465164867
Congenital pseudoarthrosis of the clavicle 0.027250431465164867
Occipital encephalocele 0.027250431465164867
Neuroblastoma 0.027250431465164867
Prominence of the premaxilla 0.027250431465164867
Upper limb asymmetry 0.027250431465164867
Abnormality of the calvaria 0.027250431465164867
Small sella turcica 0.022708692887637386
Abnormal metatarsal morphology 0.022708692887637386
Abnormal hair morphology 0.022708692887637386
Facial cleft 0.022708692887637386
Peripheral arterial stenosis 0.022708692887637386
Persistent pupillary membrane 0.022708692887637386
Distal muscle weakness 0.022708692887637386
Multiple exostoses 0.022708692887637386
Abnormality of the maxilla 0.022708692887637386
Widely spaced toes 0.022708692887637386
Encephalocele 0.022708692887637386
Limited shoulder movement 0.022708692887637386
Myopathic facies 0.022708692887637386
Cleft helix 0.022708692887637386
Vertical nystagmus 0.022708692887637386
Cerebral hemorrhage 0.022708692887637386
Abnormality of the neck 0.022708692887637386
Long penis 0.022708692887637386
Abnormal bleeding 0.022708692887637386
Buphthalmos 0.022708692887637386
Meningioma 0.022708692887637386
Reduced number of teeth 0.022708692887637386
Hypermobility of toe joints 0.022708692887637386
Caudal appendage 0.022708692887637386
Episodic ataxia 0.022708692887637386
Abnormality of the diaphragm 0.022708692887637386
Developmental stagnation at onset of seizures 0.022708692887637386
EEG with focal epileptiform discharges 0.022708692887637386
Abnormality of the hallux 0.022708692887637386
Inappropriate sexual behavior 0.022708692887637386
Excessive salivation 0.022708692887637386
Aplasia/Hypoplasia of the cerebellum 0.022708692887637386
Short columella 0.022708692887637386
Curly hair 0.022708692887637386
Abnormality of the tragus 0.022708692887637386
Abnormality of limb bone morphology 0.022708692887637386
Aplasia cutis congenita 0.022708692887637386
Cutaneous syndactyly of toes 0.022708692887637386
Neutropenia 0.022708692887637386
Progressive language deterioration 0.022708692887637386
Hypoplasia of right ventricle 0.022708692887637386
Abnormal penis morphology 0.022708692887637386
Abnormal digit morphology 0.022708692887637386
Short 5th metacarpal 0.022708692887637386
Redundant skin 0.022708692887637386
Abnormality of the inner ear 0.022708692887637386
Excessive wrinkling of palmar skin 0.022708692887637386
Recurrent upper respiratory tract infections 0.022708692887637386
Contracture of the proximal interphalangeal joint of the 5th finger 0.022708692887637386
Exaggerated startle response 0.022708692887637386
Agenesis of permanent teeth 0.022708692887637386
Right aortic arch 0.022708692887637386
Metaphyseal dysplasia 0.022708692887637386
Duplicated collecting system 0.022708692887637386
Radial bowing 0.022708692887637386
Ventricular hypertrophy 0.022708692887637386
Abnormality of the cerebral cortex 0.022708692887637386
Blue irides 0.022708692887637386
Ectodermal dysplasia 0.022708692887637386
Butterfly vertebrae 0.022708692887637386
Anal stenosis 0.022708692887637386
Aplasia/Hypoplasia of the nails 0.022708692887637386
Lumbosacral hirsutism 0.022708692887637386
Fair hair 0.022708692887637386
Muscular ventricular septal defect 0.022708692887637386
Inflexible adherence to routines or rituals 0.022708692887637386
Global brain atrophy 0.022708692887637386
Hallucinations 0.022708692887637386
Gait apraxia 0.022708692887637386
Chronic diarrhea 0.022708692887637386
Widely spaced primary teeth 0.022708692887637386
Rib fusion 0.022708692887637386
Fifth finger distal phalanx clinodactyly 0.022708692887637386
Abnormality of visual evoked potentials 0.022708692887637386
Generalized hypopigmentation 0.022708692887637386
Numerous nevi 0.022708692887637386
Prominent nasal tip 0.022708692887637386
Multiple skeletal anomalies 0.022708692887637386
Unilateral microphthalmos 0.022708692887637386
Glue ear 0.022708692887637386
Bilateral microphthalmos 0.022708692887637386
Hemimegalencephaly 0.022708692887637386
Mild neurosensory hearing impairment 0.022708692887637386
Intermittent hyperventilation 0.022708692887637386
Loss of speech 0.022708692887637386
Albinism 0.022708692887637386
Pulmonary valve atresia 0.022708692887637386
Cortical tubers 0.022708692887637386
Ascending tubular aorta aneurysm 0.022708692887637386
Abnormality of the cochlear nerve 0.022708692887637386
Laryngotracheomalacia 0.022708692887637386
Generalized muscle weakness 0.022708692887637386
Phonic tics 0.022708692887637386
Abnormal cortical gyration 0.022708692887637386
Lower limb asymmetry 0.022708692887637386
Upper limb hypertonia 0.022708692887637386
Bilateral postaxial polydactyly 0.022708692887637386
Hypoplastic male external genitalia 0.022708692887637386
Personality disorder 0.022708692887637386
Hyporeflexia 0.022708692887637386
Abnormality of body weight 0.022708692887637386
Double outlet right ventricle 0.022708692887637386
Respiratory insufficiency 0.022708692887637386
Psoriasiform dermatitis 0.022708692887637386
Arthralgia 0.022708692887637386
Dysmetria 0.022708692887637386
Mental deterioration 0.022708692887637386
Hyperpigmented/hypopigmented macules 0.022708692887637386
Presacral teratoma 0.022708692887637386
Severe sensorineural hearing impairment 0.022708692887637386
Aplasia/Hypoplasia of the ear 0.022708692887637386
Mood changes 0.022708692887637386
Bradycardia 0.022708692887637386
Hyperechogenic kidneys 0.022708692887637386
Abnormality of the pituitary gland 0.022708692887637386
Abnormal shape of the frontal region 0.022708692887637386
Tetraparesis 0.022708692887637386
Esodeviation 0.022708692887637386
Blepharitis 0.022708692887637386
Delayed myelination 0.022708692887637386
Mutism 0.022708692887637386
Metabolic acidosis 0.022708692887637386
Delayed ability to sit 0.022708692887637386
Encopresis 0.022708692887637386
Limited wrist movement 0.022708692887637386
Placental infarction 0.022708692887637386
Wide pubic symphysis 0.022708692887637386
Increased fetal movement 0.022708692887637386
Adipose tissue loss 0.022708692887637386
Abnormality of epiphysis morphology 0.022708692887637386
Abnormality of the umbilical cord 0.022708692887637386
Abnormal central sensory function 0.022708692887637386
Aplasia/Hypoplasia of the skin 0.018166954310109912
Achalasia 0.018166954310109912
Osseous finger syndactyly 0.018166954310109912
Carpal synostosis 0.018166954310109912
Conjunctivitis 0.018166954310109912
Cutaneous photosensitivity 0.018166954310109912
Adrenogenital syndrome 0.018166954310109912
Prematurely aged appearance 0.018166954310109912
Optic nerve glioma 0.018166954310109912
Multiple pulmonary cysts 0.018166954310109912
Renal tubular acidosis 0.018166954310109912
Abnormality of thalamus morphology 0.018166954310109912
Facial tics 0.018166954310109912
Enlarged joints 0.018166954310109912
Hypohidrosis 0.018166954310109912
Thickened skin 0.018166954310109912
Absent hand 0.018166954310109912
Abnormal large intestine morphology 0.018166954310109912
Cutis gyrata of scalp 0.018166954310109912
Sprengel anomaly 0.018166954310109912
Bimanual synkinesia 0.018166954310109912
Absent palmar crease 0.018166954310109912
Subdural hemorrhage 0.018166954310109912
Goiter 0.018166954310109912
Abnormal cochlea morphology 0.018166954310109912
Limbal dermoid 0.018166954310109912
Broad chin 0.018166954310109912
Abnormality of the cheek 0.018166954310109912
Abnormal motor neuron morphology 0.018166954310109912
Cleft lower lip 0.018166954310109912
Sunken cheeks 0.018166954310109912
Frontoparietal polymicrogyria 0.018166954310109912
Respiratory failure 0.018166954310109912
Short 1st metacarpal 0.018166954310109912
Aplasia/Hypoplasia of the fibula 0.018166954310109912
Hyperextensible hand joints 0.018166954310109912
Rectovaginal fistula 0.018166954310109912
Slanting of the palpebral fissure 0.018166954310109912
Symptomatic seizures 0.018166954310109912
Premature thelarche 0.018166954310109912
Progressive macrocephaly 0.018166954310109912
Abnormality of the spinal cord 0.018166954310109912
Abnormality of periauricular region 0.018166954310109912
Severe muscular hypotonia 0.018166954310109912
Abnormal lip morphology 0.018166954310109912
Hypoplastic helices 0.018166954310109912
Postural tremor 0.018166954310109912
Incomprehensible speech 0.018166954310109912
U-Shaped upper lip vermilion 0.018166954310109912
Advanced eruption of teeth 0.018166954310109912
Sensory impairment 0.018166954310109912
Overfolding of the superior helices 0.018166954310109912
Stroke 0.018166954310109912
Clinodactyly of the 3rd toe 0.018166954310109912
Bicornuate uterus 0.018166954310109912
Brisk reflexes 0.018166954310109912
Lactose intolerance 0.018166954310109912
Abnormality of retinal pigmentation 0.018166954310109912
Aplasia/Hypoplasia of the radius 0.018166954310109912
Radial club hand 0.018166954310109912
Aplasia/Hypoplasia of the distal phalanges of the toes 0.018166954310109912
Aplasia/Hypoplasia of the external ear 0.018166954310109912
Ectropion of lower eyelids 0.018166954310109912
Abnormal lacrimal duct morphology 0.018166954310109912
Birth length less than 3rd percentile 0.018166954310109912
Cone-shaped epiphyses of the phalanges of the hand 0.018166954310109912
Choroid plexus cyst 0.018166954310109912
Hypertrophy of the lower limb 0.018166954310109912
Short distal phalanx of finger 0.018166954310109912
Narrow nose 0.018166954310109912
Schizencephaly 0.018166954310109912
Aplastic/hypoplastic toenail 0.018166954310109912
Delayed eruption of permanent teeth 0.018166954310109912
Subvalvular aortic stenosis 0.018166954310109912
Abnormality of the elbow 0.018166954310109912
Gliosis 0.018166954310109912
Thickened helices 0.018166954310109912
Recurrent pneumonia 0.018166954310109912
Focal myoclonic seizure 0.018166954310109912
Patent urachus 0.018166954310109912
Abnormality of the forearm 0.018166954310109912
Everted upper lip vermilion 0.018166954310109912
Short nasal bridge 0.018166954310109912
Arthrogryposis-like hand anomaly 0.018166954310109912
Spinal dysraphism 0.018166954310109912
Complex febrile seizure 0.018166954310109912
Horizontal nystagmus 0.018166954310109912
Thickened calvaria 0.018166954310109912
Abnormality of the frontal hairline 0.018166954310109912
Nephrocalcinosis 0.018166954310109912
Childhood onset sensorineural hearing impairment 0.018166954310109912
Abnormality of neuronal migration 0.018166954310109912
Hypermelanotic macule 0.018166954310109912
Transverse facial cleft 0.018166954310109912
Obsessive-compulsive trait 0.018166954310109912
Vitiligo 0.018166954310109912
Short fourth metatarsal 0.018166954310109912
Underfolded helix 0.018166954310109912
Generalized hypertrichosis 0.018166954310109912
Alobar holoprosencephaly 0.018166954310109912
Abnormal number of hair whorls 0.018166954310109912
Cleft anterior mitral valve leaflet 0.018166954310109912
Leukopenia 0.018166954310109912
Inlet ventricular septal defect 0.018166954310109912
Abnormal atrioventricular connection 0.018166954310109912
Pica 0.018166954310109912
Corneal opacity 0.018166954310109912
Finger syndactyly 0.018166954310109912
Increased number of skin folds 0.018166954310109912
Abnormality of the pulmonary artery 0.018166954310109912
Increased thyroid-stimulating hormone level 0.018166954310109912
Cerebellar malformation 0.018166954310109912
Vertigo 0.018166954310109912
Vascular ring 0.018166954310109912
Clubbing of toes 0.018166954310109912
Small anterior fontanelle 0.018166954310109912
Mood swings 0.018166954310109912
Subcutaneous lipoma 0.018166954310109912
Intracranial hemorrhage 0.018166954310109912
Ocular albinism 0.018166954310109912
Broad eyebrow 0.018166954310109912
Abnormal aortic valve morphology 0.018166954310109912
Genu recurvatum 0.018166954310109912
Overhanging nasal tip 0.018166954310109912
Severe failure to thrive 0.018166954310109912
Diastema 0.018166954310109912
Superior pectus carinatum 0.018166954310109912
Bilateral choanal atresia 0.018166954310109912
Infancy onset short-trunk short stature 0.018166954310109912
Type E brachydactyly 0.018166954310109912
Cerebellar dysplasia 0.018166954310109912
Abnormality of mouth shape 0.018166954310109912
Dementia 0.018166954310109912
Chylothorax 0.018166954310109912
4-5 toe syndactyly 0.018166954310109912
Myoclonic absence seizure 0.018166954310109912
Skull asymmetry 0.018166954310109912
Exocrine pancreatic insufficiency 0.018166954310109912
Migraine 0.018166954310109912
Aortic aneurysm 0.018166954310109912
Lower limb muscle weakness 0.018166954310109912
Ischemic stroke 0.018166954310109912
Gonadal tissue inappropriate for external genitalia or chromosomal sex 0.018166954310109912
Obstructive sleep apnea 0.018166954310109912
Nephrotic syndrome 0.018166954310109912
Celiac disease 0.018166954310109912
Decreased skull ossification 0.018166954310109912
Decreased circulating cortisol level 0.018166954310109912
Diffuse white matter abnormalities 0.018166954310109912
Aplasia/Hypoplasia of the sacrum 0.018166954310109912
Alternating esotropia 0.018166954310109912
Narrow nail 0.018166954310109912
High-frequency hearing impairment 0.018166954310109912
Abnormality of head or neck 0.018166954310109912
Hypoplastic aortic arch 0.018166954310109912
Bradykinesia 0.018166954310109912
Socially inappropriate behavior 0.018166954310109912
Head tremor 0.018166954310109912
Megacystis 0.018166954310109912
Metatarsus valgus 0.018166954310109912
Brain neoplasm 0.018166954310109912
Perivascular spaces 0.018166954310109912
Sleep onset Insomnia 0.018166954310109912
Retractile testis 0.018166954310109912
Systolic heart murmur 0.018166954310109912
Broad clavicles 0.018166954310109912
Short ribs 0.018166954310109912
Sacrococcygeal pilonidal abnormality 0.018166954310109912
Extension of eyebrows towards upper eyelid 0.018166954310109912
Abnormal autonomic nervous system physiology 0.018166954310109912
Impaired toileting ability 0.018166954310109912
Partial anomalous pulmonary venous return 0.013625215732582434
Osteopoikilosis 0.013625215732582434
Cloacal exstrophy 0.013625215732582434
Abnormality of the seventh cranial nerve 0.013625215732582434
Vestibular dysfunction 0.013625215732582434
Primum atrial septal defect 0.013625215732582434
Abnormality of the tarsal bones 0.013625215732582434
Abnormality of the breast 0.013625215732582434
Hallux varus 0.013625215732582434
Neoplasm of the central nervous system 0.013625215732582434
Naevus flammeus of the eyelid 0.013625215732582434
Abnormality of macular pigmentation 0.013625215732582434
Temporal cortical atrophy 0.013625215732582434
Abnormality of the basal ganglia 0.013625215732582434
Abnormality of cranial sutures 0.013625215732582434
Excessive wrinkled skin 0.013625215732582434
Abnormality of the ilium 0.013625215732582434
Abnormally lax or hyperextensible skin 0.013625215732582434
Underdeveloped crus of the helix 0.013625215732582434
Abnormality of the glabella 0.013625215732582434
Aplasia/Hypoplasia involving the carpal bones 0.013625215732582434
Central diabetes insipidus 0.013625215732582434
Midline defect of the nose 0.013625215732582434
Papilledema 0.013625215732582434
Urethral fistula 0.013625215732582434
Iris hypopigmentation 0.013625215732582434
Abnormality of the choroid plexus 0.013625215732582434
Lymphadenopathy 0.013625215732582434
Hematological neoplasm 0.013625215732582434
Inability to walk 0.013625215732582434
Fibular bowing 0.013625215732582434
Fibrous dysplasia of the bones 0.013625215732582434
Abnormality of secondary sexual hair 0.013625215732582434
Alopecia of scalp 0.013625215732582434
Aplasia/Hypoplasia involving the nose 0.013625215732582434
Abnormal peripheral nervous system morphology 0.013625215732582434
Multifocal epileptiform discharges 0.013625215732582434
Abnormality of the thyroid gland 0.013625215732582434
Severe generalized osteoporosis 0.013625215732582434
Deep-set nails 0.013625215732582434
Abnormal brainstem morphology 0.013625215732582434
Focal aware seizure 0.013625215732582434
Disproportionate short-trunk short stature 0.013625215732582434
Non-restrictive ventricular septal defect 0.013625215732582434
Falls 0.013625215732582434
Atrioventricular block 0.013625215732582434
Abnormal scapula morphology 0.013625215732582434
Aplasia/Hypoplasia of the phalanges of the hand 0.013625215732582434
Fused cervical vertebrae 0.013625215732582434
Renal duplication 0.013625215732582434
Interictal epileptiform activity 0.013625215732582434
Slurred speech 0.013625215732582434
Laryngeal cleft 0.013625215732582434
Optic disc pallor 0.013625215732582434
Rhabdomyolysis 0.013625215732582434
Abnormality of the cerebellar vermis 0.013625215732582434
3-4 toe syndactyly 0.013625215732582434
Nocturnal hypoventilation 0.013625215732582434
Spontaneous neonatal pneumothorax 0.013625215732582434
Horizontal crus of helix 0.013625215732582434
Fragile skin 0.013625215732582434
Pectoral muscle hypoplasia/aplasia 0.013625215732582434
Nail dystrophy 0.013625215732582434
Bilateral camptodactyly 0.013625215732582434
Joint contracture of the 5th finger 0.013625215732582434
Ectopia lentis 0.013625215732582434
Yellow-brown discoloration of the teeth 0.013625215732582434
Aplasia/Hypoplasia of the optic nerve 0.013625215732582434
Recurrent fractures 0.013625215732582434
Shortening of all distal phalanges of the fingers 0.013625215732582434
Generalized clonic seizure 0.013625215732582434
Impaired use of nonverbal behaviors 0.013625215732582434
Chronic lung disease 0.013625215732582434
Breathing dysregulation 0.013625215732582434
Urinary urgency 0.013625215732582434
Scleroderma 0.013625215732582434
Spontaneous pneumothorax 0.013625215732582434
Intracranial cystic lesion 0.013625215732582434
Atypical absence seizure 0.013625215732582434
Acromelia of the upper limbs 0.013625215732582434
Chorioretinal atrophy 0.013625215732582434
Myoclonic spasms 0.013625215732582434
Long uvula 0.013625215732582434
Increased susceptibility to fractures 0.013625215732582434
Branchial anomaly 0.013625215732582434
Functional abnormality of the bladder 0.013625215732582434
Long thorax 0.013625215732582434
Abnormal intestine morphology 0.013625215732582434
Abnormality of the wrist 0.013625215732582434
Absent cupid's bow 0.013625215732582434
Abnormality of refraction 0.013625215732582434
Decreased circulating IgA level 0.013625215732582434
Patchy hypopigmentation of hair 0.013625215732582434
2-4 toe cutaneous syndactyly 0.013625215732582434
Generalized hyperreflexia 0.013625215732582434
Marked delay in bone age 0.013625215732582434
Abnormal elasticity of skin 0.013625215732582434
Echogenic fetal bowel 0.013625215732582434
Microscopic hematuria 0.013625215732582434
Camptodactyly of toe 0.013625215732582434
Lower limb amyotrophy 0.013625215732582434
Pear-shaped nose 0.013625215732582434
Ureteropelvic junction obstruction 0.013625215732582434
Hypercalciuria 0.013625215732582434
Aplasia/hypoplasia of the femur 0.013625215732582434
Frontal hirsutism 0.013625215732582434
Abnormal number of teeth 0.013625215732582434
Long eyebrows 0.013625215732582434
Dyskinesia 0.013625215732582434
Broad uvula 0.013625215732582434
Nasal, dysarthic speech 0.013625215732582434
Cerebellar ataxia associated with quadrupedal gait 0.013625215732582434
External genital hypoplasia 0.013625215732582434
Aplasia cutis congenita over the scalp vertex 0.013625215732582434
Rectal fistula 0.013625215732582434
Broad distal phalanx of finger 0.013625215732582434
Hypoplastic superior helix 0.013625215732582434
Abnormality of the musculature of the limbs 0.013625215732582434
4-5 finger syndactyly 0.013625215732582434
Melanocytic nevus 0.013625215732582434
Hypokinesia 0.013625215732582434
Spastic paraplegia 0.013625215732582434
Abnormality of the immune system 0.013625215732582434
Hashimoto thyroiditis 0.013625215732582434
Hypersomnia 0.013625215732582434
Hand tremor 0.013625215732582434
Limited elbow extension 0.013625215732582434
Laryngeal stridor 0.013625215732582434
Subglottic stenosis 0.013625215732582434
Irregular menstruation 0.013625215732582434
Exostoses 0.013625215732582434
Narrow nasal septum 0.013625215732582434
Hemiparesis 0.013625215732582434
Linear hyperpigmentation 0.013625215732582434
Metaphyseal chondrodysplasia 0.013625215732582434
Hemolytic anemia 0.013625215732582434
Ulcerative colitis 0.013625215732582434
Aplasia/hypoplasia involving bones of the hand 0.013625215732582434
Immunologic hypersensitivity 0.013625215732582434
Normal pressure hydrocephalus 0.013625215732582434
Bilateral fetal pyelectasis 0.013625215732582434
Overbite 0.013625215732582434
Abnormality of thumb phalanx 0.013625215732582434
Mildly elevated creatine kinase 0.013625215732582434
Left ventricular hypertrophy 0.013625215732582434
Mandibulofacial dysostosis 0.013625215732582434
Thyroid agenesis 0.013625215732582434
Bronchomalacia 0.013625215732582434
Brain atrophy 0.013625215732582434
Inappropriate crying 0.013625215732582434
Abnormal nasal morphology 0.013625215732582434
CNS hypomyelination 0.013625215732582434
Intestinal pseudo-obstruction 0.013625215732582434
Volvulus 0.013625215732582434
Bilateral cleft palate 0.013625215732582434
Low insertion of columella 0.013625215732582434
Frequent temper tantrums 0.013625215732582434
Shortening of all phalanges of fingers 0.013625215732582434
Juvenile cataract 0.013625215732582434
Abdominal mass 0.013625215732582434
Asymmetric ventricles 0.013625215732582434
Abnormality of coagulation 0.013625215732582434
Short fetal femur length 0.013625215732582434
Gerbode ventricular septal defect 0.013625215732582434
Aortic valve atresia 0.013625215732582434
Stage 5 chronic kidney disease 0.013625215732582434
Abnormal umbilical cord blood vessels 0.013625215732582434
Dysplastic aortic valve 0.013625215732582434
Hemiatrophy 0.013625215732582434
Hypoplastic sacral vertebrae 0.013625215732582434
Lumbar hypertrichosis 0.013625215732582434
Postaxial polysyndactyly of foot 0.013625215732582434
Axenfeld anomaly 0.013625215732582434
Lymphangioma 0.013625215732582434
Left ventricular noncompaction cardiomyopathy 0.013625215732582434
Hypotension 0.013625215732582434
Abnormality of the upper urinary tract 0.013625215732582434
Asymmetric short stature 0.013625215732582434
Hypoplastic right heart 0.013625215732582434
Pancytopenia 0.013625215732582434
Abnormality of the scrotum 0.013625215732582434
Hyperventilation 0.013625215732582434
Total anomalous pulmonary venous return 0.013625215732582434
Abnormality of the metopic suture 0.013625215732582434
Bell-shaped thorax 0.013625215732582434
Enlarged thorax 0.013625215732582434
Progressive spastic quadriplegia 0.013625215732582434
Abnormality of the uvula 0.013625215732582434
Spinal rigidity 0.013625215732582434
Abnormal pulmonary valve morphology 0.013625215732582434
Transient neonatal diabetes mellitus 0.013625215732582434
Gastrointestinal obstruction 0.013625215732582434
Remnants of the hyaloid vascular system 0.013625215732582434
Hepatosplenomegaly 0.013625215732582434
Neonatal breathing dysregulation 0.013625215732582434
Hand oligodactyly 0.013625215732582434
Hypomelanotic macule 0.013625215732582434
Telangiectasia 0.013625215732582434
Adrenal insufficiency 0.013625215732582434
Motor deterioration 0.013625215732582434
Panhypopituitarism 0.013625215732582434
Abnormal bronchus morphology 0.013625215732582434
Grammar-specific speech disorder 0.013625215732582434
Abnormality of upper lip vermillion 0.013625215732582434
Joint contracture of the hand 0.013625215732582434
Premature rupture of membranes 0.013625215732582434
Abnormality of the cerebral ventricles 0.013625215732582434
Irregularly spaced teeth 0.013625215732582434
Bilateral renal agenesis 0.013625215732582434
Multiple enchondromatosis 0.013625215732582434
Babinski sign 0.013625215732582434
Elevated hepatic transaminase 0.013625215732582434
Abnormality of the cervical spine 0.013625215732582434
Lumbar scoliosis 0.013625215732582434
Enterocolitis 0.013625215732582434
Fetal fifth finger clinodactyly 0.013625215732582434
Lobar holoprosencephaly 0.013625215732582434
Aplasia/Hypoplasia of the eyebrow 0.013625215732582434
Thin nail 0.013625215732582434
Decreased circulating antibody level 0.013625215732582434
Polyneuropathy 0.013625215732582434
Congenital ichthyosiform erythroderma 0.013625215732582434
Graves disease 0.013625215732582434
Posterior embryotoxon 0.013625215732582434
Tetralogy of Fallot with pulmonary stenosis 0.013625215732582434
Postauricular skin tag 0.013625215732582434
Shuffling gait 0.013625215732582434
Hyposmia 0.013625215732582434
Aplasia/Hypoplasia of the phalanges of the 2nd finger 0.013625215732582434
Deformed rib cage 0.013625215732582434
Histiocytosis 0.013625215732582434
Absent/hypoplastic coccyx 0.013625215732582434
Maternal teratogenic exposure 0.013625215732582434
Calcaneovalgus deformity 0.013625215732582434
Abnormality of connective tissue 0.013625215732582434
Disproportionate short stature 0.013625215732582434
Abnormality of the anterior fontanelle 0.013625215732582434
Fetal megacystis 0.013625215732582434
Diarrhea 0.013625215732582434
Oral motor hypotonia 0.013625215732582434
Diplopia 0.013625215732582434
Intellectual disability, progressive 0.013625215732582434
No social interaction 0.013625215732582434
Piebaldism 0.013625215732582434
Progressive cerebellar ataxia 0.013625215732582434
Premature adrenarche 0.013625215732582434
Septo-optic dysplasia 0.013625215732582434
Pineal cyst 0.013625215732582434
Muscle spasm 0.013625215732582434
Stereotypical body rocking 0.013625215732582434
Macrocytic anemia 0.013625215732582434
Astrocytoma 0.013625215732582434
Fatigue 0.013625215732582434
Calf muscle pseudohypertrophy 0.013625215732582434
Hooded eyelid 0.013625215732582434
Drowsiness 0.013625215732582434
Hernia of the abdominal wall 0.013625215732582434
Hip subluxation 0.013625215732582434
Unilateral facial palsy 0.013625215732582434
Congenital malformation of the right heart 0.013625215732582434
Ophthalmoplegia 0.013625215732582434
Sound sensitivity 0.013625215732582434
Enchondroma 0.013625215732582434
Poor hand-eye coordination 0.013625215732582434
Cardiac rhabdomyoma 0.013625215732582434
Foot monodactyly 0.013625215732582434
Exodeviation 0.013625215732582434
Decreased head circumference 0.013625215732582434
Alternating exotropia 0.013625215732582434
Dermal translucency 0.013625215732582434
Abnormal heart valve morphology 0.013625215732582434
Broad ribs 0.013625215732582434
Conjunctival telangiectasia 0.013625215732582434
Thin calvarium 0.013625215732582434
Male pseudohermaphroditism 0.013625215732582434
Abnormality of dentin 0.013625215732582434
Coxa vara 0.013625215732582434
Lateral clavicle hook 0.013625215732582434
Abnormal acetabulum morphology 0.013625215732582434
Aplasia/Hypoplasia of the diaphragm 0.013625215732582434
Mandibular aplasia 0.013625215732582434
Flared iliac wings 0.013625215732582434
Weakness of facial musculature 0.013625215732582434
Abnormal pelvis bone morphology 0.013625215732582434
Single naris 0.013625215732582434
Skeletal muscle hypertrophy 0.013625215732582434
Abnormal macular morphology 0.013625215732582434
Increased laxity of ankles 0.013625215732582434
Forearm reduction defects 0.013625215732582434
Cerebral arteriovenous malformation 0.013625215732582434
Facial diplegia 0.013625215732582434
Abnormal temper tantrums 0.013625215732582434
Abnormal cerebral morphology 0.013625215732582434
Dysplastic tricuspid valve 0.013625215732582434
Sinus venosus atrial septal defect 0.009083477155054956
EEG with spike-wave complexes (<2.5 Hz) 0.009083477155054956
Involuntary movements 0.009083477155054956
Intestinal duplication 0.009083477155054956
Occipital cortical atrophy 0.009083477155054956
Parietal cortical atrophy 0.009083477155054956
Asymmetry of the maxilla 0.009083477155054956
Tongue fasciculations 0.009083477155054956
Hypoplasia of the vagina 0.009083477155054956
Increased bone mineral density 0.009083477155054956
Female pseudohermaphroditism 0.009083477155054956
Abnormal nasolacrimal system morphology 0.009083477155054956
Blepharochalasis 0.009083477155054956
Humeroradial synostosis 0.009083477155054956
Abnormality of the lens 0.009083477155054956
Right aortic arch with mirror image branching 0.009083477155054956
Distichiasis 0.009083477155054956
Lower limb peromelia 0.009083477155054956
Bifid nail 0.009083477155054956
Uterine neoplasm 0.009083477155054956
Frontal cortical atrophy 0.009083477155054956
Aplasia/hypoplasia involving bones of the lower limbs 0.009083477155054956
Nasal regurgitation 0.009083477155054956
Distal lower limb amyotrophy 0.009083477155054956
Meningitis 0.009083477155054956
Osteomalacia 0.009083477155054956
Seborrheic dermatitis 0.009083477155054956
Lower lip pit 0.009083477155054956
Abnormality of the temporomandibular joint 0.009083477155054956
Focal emotional seizure with crying 0.009083477155054956
Multiple central nervous system lipomas 0.009083477155054956
Amelia involving the upper limbs 0.009083477155054956
Crohn's disease 0.009083477155054956
Arterial tortuosity 0.009083477155054956
Severe combined immunodeficiency 0.009083477155054956
Autoimmunity 0.009083477155054956
EEG with generalized polyspikes 0.009083477155054956
Lingual thyroid 0.009083477155054956
Neoplasm of the gastrointestinal tract 0.009083477155054956
Abnormal pattern of respiration 0.009083477155054956
Abnormal posturing 0.009083477155054956
Tracheobronchomalacia 0.009083477155054956
Apneic episodes in infancy 0.009083477155054956
Hypophosphatemia 0.009083477155054956
Foot asymmetry 0.009083477155054956
Talipes valgus 0.009083477155054956
Urticaria 0.009083477155054956
Palate fistula 0.009083477155054956
Rectal prolapse 0.009083477155054956
Enlarged cerebellum 0.009083477155054956
Abnormal plantar dermatoglyphics 0.009083477155054956
Cavum septum pellucidum 0.009083477155054956
Pericarditis 0.009083477155054956
Hypoplasia of the zygomatic bone 0.009083477155054956
Loss of consciousness 0.009083477155054956
Papule 0.009083477155054956
Exercise intolerance 0.009083477155054956
Nuclear cataract 0.009083477155054956
Abnormal 5th finger morphology 0.009083477155054956
Abnormal oral cavity morphology 0.009083477155054956
Abnormality of immune system physiology 0.009083477155054956
Molar tooth sign on MRI 0.009083477155054956
Hypoplasia of penis 0.009083477155054956
Hypertrophy of the upper limb 0.009083477155054956
Short 2nd toe 0.009083477155054956
Noncommunicating hydrocephalus 0.009083477155054956
Choreoathetosis 0.009083477155054956
Focal white matter lesions 0.009083477155054956
Microtia, second degree 0.009083477155054956
Abnormal sclera morphology 0.009083477155054956
Midline central nervous system lipomas 0.009083477155054956
Increased muscle fatiguability 0.009083477155054956
Focal dystonia 0.009083477155054956
Aplasia/hypoplasia of the extremities 0.009083477155054956
Branchial fistula 0.009083477155054956
Prune belly 0.009083477155054956
Peripheral demyelination 0.009083477155054956
Spherocytosis 0.009083477155054956
Increased carrying angle 0.009083477155054956
Large beaked nose 0.009083477155054956
Shoulder dimple 0.009083477155054956
Aortic root aneurysm 0.009083477155054956
Abnormal fingertip morphology 0.009083477155054956
Bifid distal phalanx of the thumb 0.009083477155054956
Diffuse cerebral atrophy 0.009083477155054956
Unilateral radial aplasia 0.009083477155054956
Abnormality of the middle ear 0.009083477155054956
Camptodactyly of 2nd-5th fingers 0.009083477155054956
Asymmetric growth 0.009083477155054956
Pituitary dwarfism 0.009083477155054956
Broad distal phalanx of the thumb 0.009083477155054956
Shortening of all distal phalanges of the toes 0.009083477155054956
Shortening of all middle phalanges of the toes 0.009083477155054956
Dentinogenesis imperfecta 0.009083477155054956
Mesoaxial foot polydactyly 0.009083477155054956
Respiratory failure requiring assisted ventilation 0.009083477155054956
Photosensitive tonic-clonic seizure 0.009083477155054956
Alacrima 0.009083477155054956
Tarsal synostosis 0.009083477155054956
Generalized dystonia 0.009083477155054956
Corneal scarring 0.009083477155054956
Premature birth following premature rupture of fetal membranes 0.009083477155054956
Fused teeth 0.009083477155054956
Thenar muscle atrophy 0.009083477155054956
Mild myopia 0.009083477155054956
Broad fingertip 0.009083477155054956
Elbow hypertrichosis 0.009083477155054956
Focal clonic seizure 0.009083477155054956
Congenital contracture 0.009083477155054956
Muscle abnormality related to mitochondrial dysfunction 0.009083477155054956
Deficit in phonologic short-term memory 0.009083477155054956
Neutropenia in presence of anti-neutropil antibodies 0.009083477155054956
EEG with generalized slow activity 0.009083477155054956
Prominent supraorbital arches in adult 0.009083477155054956
Ventouse delivery 0.009083477155054956
Congenital foot contractures 0.009083477155054956
Recurrent infections in infancy and early childhood 0.009083477155054956
Lumbar spinal canal stenosis 0.009083477155054956
Hepatic cysts 0.009083477155054956
Contracture of the distal interphalangeal joint of the fingers 0.009083477155054956
Aplasia/Hypoplasia of toe 0.009083477155054956
Hypermobility of interphalangeal joints 0.009083477155054956
Absence of stomach bubble on fetal sonography 0.009083477155054956
Opsoclonus 0.009083477155054956
Pointed helix 0.009083477155054956
Abnormality of incisor morphology 0.009083477155054956
Intermittent thrombocytopenia 0.009083477155054956
Upper limb amyotrophy 0.009083477155054956
Polyarticular arthritis 0.009083477155054956
Abnormal oral frenulum morphology 0.009083477155054956
Hypoplastic fifth toenail 0.009083477155054956
Predominantly lower limb lymphedema 0.009083477155054956
Abnormal nervous system electrophysiology 0.009083477155054956
Flexion contracture of the 5th toe 0.009083477155054956
Aplasia/Hypoplasia of the spleen 0.009083477155054956
Semilobar holoprosencephaly 0.009083477155054956
Esophagitis 0.009083477155054956
Abnormal cardiac ventricle morphology 0.009083477155054956
Aplasia/Hypoplasia involving bones of the thorax 0.009083477155054956
Deviation of toes 0.009083477155054956
Bulimia 0.009083477155054956
Functional motor deficit 0.009083477155054956
Short uvula 0.009083477155054956
Facial hypertrichosis 0.009083477155054956
Thoracic hypertrichosis 0.009083477155054956
Enlarged vestibular aqueduct 0.009083477155054956
Coronal hypospadias 0.009083477155054956
Bridged palmar crease 0.009083477155054956
Aplasia/Hypoplasia of the ovary 0.009083477155054956
Aplasia/hypoplasia of the uterus 0.009083477155054956
Gaze-evoked nystagmus 0.009083477155054956
Abnormal lumbar spine morphology 0.009083477155054956
Frontotemporal cerebral atrophy 0.009083477155054956
Recurrent bronchitis 0.009083477155054956
Stroke-like episode 0.009083477155054956
Hemihypertrophy of upper limb 0.009083477155054956
Abnormality of the scalp hair 0.009083477155054956
Left superior vena cava draining to coronary sinus 0.009083477155054956
Short tibia 0.009083477155054956
Abnormal rectum morphology 0.009083477155054956
Bilateral radial aplasia 0.009083477155054956
IgA deposition in the glomerulus 0.009083477155054956
Azoospermia 0.009083477155054956
Abnormal shape of the palpebral fissure 0.009083477155054956
Concave nasal ridge 0.009083477155054956
Oval face 0.009083477155054956
Hypodontia 0.009083477155054956
Osteopenia 0.009083477155054956
Orofacial dyskinesia 0.009083477155054956
Abnormal palmar dermatoglyphics 0.009083477155054956
Ureteral obstruction 0.009083477155054956
Type I truncus arteriosus 0.009083477155054956
Hypoplasia of the frontal lobes 0.009083477155054956
Lower thoracic kyphosis 0.009083477155054956
Aplasia/Hypoplasia of the nipples 0.009083477155054956
Pinealoma 0.009083477155054956
Vertebral arch anomaly 0.009083477155054956
Low levels of vitamin D 0.009083477155054956
Patchy alopecia 0.009083477155054956
Cranial nerve VI palsy 0.009083477155054956
Esophageal stenosis 0.009083477155054956
Micromelia 0.009083477155054956
Cessation of head growth 0.009083477155054956
Abnormal scalp morphology 0.009083477155054956
Agoraphobia 0.009083477155054956
Exercise-induced muscle fatigue 0.009083477155054956
Cervical kyphosis 0.009083477155054956
Generalized abnormality of skin 0.009083477155054956
Hydroureter 0.009083477155054956
Hyperpigmented nevi 0.009083477155054956
Bilateral cleft lip 0.009083477155054956
Structural foot deformity 0.009083477155054956
Mesiodens 0.009083477155054956
Laryngeal stenosis 0.009083477155054956
Dysphonia 0.009083477155054956
Patellar subluxation 0.009083477155054956
Wolff-Parkinson-White syndrome 0.009083477155054956
Hypoplasia of the pons 0.009083477155054956
Ankle clonus 0.009083477155054956
Upper limb spasticity 0.009083477155054956
1-5 finger syndactyly 0.009083477155054956
Abnormality of the hairline 0.009083477155054956
Abnormal eyelash morphology 0.009083477155054956
Bladder exstrophy 0.009083477155054956
Renal hypoplasia/aplasia 0.009083477155054956
Atypical scarring of skin 0.009083477155054956
Chronic sensorineural polyneuropathy 0.009083477155054956
Hypercoagulability 0.009083477155054956
Skin ulcer 0.009083477155054956
Depigmentation/hyperpigmentation of skin 0.009083477155054956
Unilateral brachydactyly 0.009083477155054956
Hyperbilirubinemia 0.009083477155054956
Prominent nasal septum 0.009083477155054956
Thin eyebrow 0.009083477155054956
Neurogenic bladder 0.009083477155054956
Short distal phalanx of the thumb 0.009083477155054956
Inflammation of the large intestine 0.009083477155054956
Penoscrotal hypospadias 0.009083477155054956
Forward facing earlobe 0.009083477155054956
Testicular atrophy 0.009083477155054956
Abnormal hair quantity 0.009083477155054956
Coronal craniosynostosis 0.009083477155054956
Iron deficiency anemia 0.009083477155054956
Pulmonary artery atresia 0.009083477155054956
Overgrowth of external genitalia 0.009083477155054956
Inspiratory stridor 0.009083477155054956
Abnormality of the larynx 0.009083477155054956
Ureteral stenosis 0.009083477155054956
11 pairs of ribs 0.009083477155054956
Flexion contracture of the 2nd finger 0.009083477155054956
Infantile sensorineural hearing impairment 0.009083477155054956
Dysharmonic delayed bone age 0.009083477155054956
Female hypogonadism 0.009083477155054956
Hypoplasia of the optic tract 0.009083477155054956
Enlarged fetal cisterna magna 0.009083477155054956
Abnormal localization of kidney 0.009083477155054956
Eczematoid dermatitis 0.009083477155054956
Lumbar kyphosis in infancy 0.009083477155054956
Sudden episodic apnea 0.009083477155054956
Synovitis 0.009083477155054956
Large face 0.009083477155054956
Unilateral renal atrophy 0.009083477155054956
Curved fingers 0.009083477155054956
Equinovarus deformity 0.009083477155054956
Adenomatous colonic polyposis 0.009083477155054956
Petechiae 0.009083477155054956
Aplasia of the bladder 0.009083477155054956
Abnormality of ductus venosus blood flow 0.009083477155054956
Laryngotracheal stenosis 0.009083477155054956
Incisor macrodontia 0.009083477155054956
Pigmentary retinopathy 0.009083477155054956
Dystrophic fingernails 0.009083477155054956
Absent thumb 0.009083477155054956
Hepatoblastoma 0.009083477155054956
Hepatic calcification 0.009083477155054956
Rigidity 0.009083477155054956
Short metatarsal 0.009083477155054956
Abnormal head movements 0.009083477155054956
Areflexia 0.009083477155054956
Osteopetrosis 0.009083477155054956
Generalized hypotonia due to defect at the neuromuscular junction 0.009083477155054956
Lactic acidosis 0.009083477155054956
Abnormality of the thymus 0.009083477155054956
Abnormality of thyroid physiology 0.009083477155054956
Persistent open anterior fontanelle 0.009083477155054956
Hyponatremia 0.009083477155054956
Unilateral vestibular Schwannoma 0.009083477155054956
Abnormality of skeletal morphology 0.009083477155054956
Decreased muscle mass 0.009083477155054956
Proximal radio-ulnar synostosis 0.009083477155054956
Abnormal 2nd finger morphology 0.009083477155054956
Encephalitis 0.009083477155054956
Transient ischemic attack 0.009083477155054956
Oxycephaly 0.009083477155054956
Cheilitis 0.009083477155054956
Tachycardia 0.009083477155054956
Gastroparesis 0.009083477155054956
Aminoaciduria 0.009083477155054956
Abnormality of the scaphoid 0.009083477155054956
Nephropathy 0.009083477155054956
Cerebral hypoplasia 0.009083477155054956
Abnormality of the ankles 0.009083477155054956
Fatigable weakness 0.009083477155054956
Abnormality of the urethra 0.009083477155054956
Hamartoma 0.009083477155054956
Intestinal lymphangiectasia 0.009083477155054956
Abnormal form of the vertebral bodies 0.009083477155054956
Hypoplastic heart 0.009083477155054956
Abnormal facial expression 0.009083477155054956
Right ventricular hypertrophy 0.009083477155054956
Aplasia/Hypoplasia of the testes 0.009083477155054956
Infertility 0.009083477155054956
Asymmetric crying face 0.009083477155054956
Subluxation of the small joints of the hand 0.009083477155054956
Abnormality of the amniotic fluid 0.009083477155054956
Scapulohumeral muscular dystrophy 0.009083477155054956
Colon cancer 0.009083477155054956
Abnormality of pain sensation 0.009083477155054956
Abnormal hippocampus morphology 0.009083477155054956
Juvenile gastrointestinal polyposis 0.009083477155054956
Abnormality of dental structure 0.009083477155054956
Tibial torsion 0.009083477155054956
Vascular skin abnormality 0.009083477155054956
Neck pterygia 0.009083477155054956
Morphological abnormality of the semicircular canal 0.009083477155054956
Generalized bone demineralization 0.009083477155054956
Jejunal atresia 0.009083477155054956
Severe hydrocephalus 0.009083477155054956
Shallow orbits 0.009083477155054956
Numerous pigmented freckles 0.009083477155054956
Hemihypertrophy of lower limb 0.009083477155054956
Menorrhagia 0.009083477155054956
Non-obstructive azoospermia 0.009083477155054956
Diaphragmatic paralysis 0.009083477155054956
Multiple joint contractures 0.009083477155054956
Olivopontocerebellar hypoplasia 0.009083477155054956
Cerebral dysmyelination 0.009083477155054956
Abnormality of the periventricular white matter 0.009083477155054956
Ectopic calcification 0.009083477155054956
Inflammatory abnormality of the eye 0.009083477155054956
Bulbous tips of toes 0.009083477155054956
Hypoplastic tricuspid valve 0.009083477155054956
Abnormal left ventricle morphology 0.009083477155054956
Congenital bilateral hip dislocation 0.009083477155054956
Distal symphalangism 0.009083477155054956
1-2 finger syndactyly 0.009083477155054956
Facial capillary hemangioma 0.009083477155054956
Cholesteatoma 0.009083477155054956
Lipoma 0.009083477155054956
Abnormal globus pallidus morphology 0.009083477155054956
Congenital horizontal nystagmus 0.009083477155054956
Hypermobility of distal interphalangeal joints 0.009083477155054956
Rudimentary postaxial polydactyly of hands 0.009083477155054956
Cataplexy 0.009083477155054956
Asymmetry of the breasts 0.009083477155054956
Microcolon 0.009083477155054956
Abnormal toenail morphology 0.009083477155054956
Congenital craniofacial dysostosis 0.009083477155054956
Gingivitis 0.009083477155054956
Premature skin wrinkling 0.009083477155054956
Adult onset sensorineural hearing impairment 0.009083477155054956
Bronchiolitis 0.009083477155054956
Agenesis of cerebellar vermis 0.009083477155054956
Abnormal blistering of the skin 0.009083477155054956
Thoracolumbar kyphoscoliosis 0.009083477155054956
Aplasia/Hypoplasia affecting the anterior segment of the eye 0.009083477155054956
Abnormality of the 3rd toe 0.009083477155054956
Vertebral clefting 0.009083477155054956
Areflexia of lower limbs 0.009083477155054956
Madelung-like forearm deformities 0.009083477155054956
Congenital kyphoscoliosis 0.009083477155054956
Cleft ala nasi 0.009083477155054956
Long ear 0.009083477155054956
Renal angiomyolipoma 0.009083477155054956
Abnormal pulmonary Interstitial morphology 0.009083477155054956
Diastomatomyelia 0.009083477155054956
Aplasia/Hypoplasia of the distal phalanges of the hand 0.009083477155054956
Aplasia/Hypoplasia of the middle phalanges of the hand 0.009083477155054956
Glabellar hemangioma 0.009083477155054956
Aplasia/Hypoplasia of the phalanges of the 3rd finger 0.009083477155054956
Short third metatarsal 0.009083477155054956
Allergic rhinitis 0.009083477155054956
Syncope 0.009083477155054956
Lymphoma 0.009083477155054956
Puberty and gonadal disorders 0.009083477155054956
Perioral eczema 0.009083477155054956
Pneumonia 0.009083477155054956
Basal cell carcinoma 0.009083477155054956
Unilateral absence of pectoralis major muscle 0.009083477155054956
Nyctalopia 0.009083477155054956
Increased head circumference 0.009083477155054956
Occipital meningocele 0.009083477155054956
Melanoma 0.009083477155054956
Nasogastric tube feeding 0.009083477155054956
Overjet 0.009083477155054956
Upper limb postural tremor 0.009083477155054956
Craniofacial disproportion 0.009083477155054956
Abnormal aortic arch morphology 0.009083477155054956
Abnormality of tibia morphology 0.009083477155054956
Parkinsonism 0.009083477155054956
Atrial septal dilatation 0.009083477155054956
Deviation of finger 0.009083477155054956
Hepatocellular adenoma 0.009083477155054956
Decreased circulating IgG level 0.009083477155054956
Distal urethral duplication 0.009083477155054956
Subcortical cerebral atrophy 0.009083477155054956
Athetoid cerebral palsy 0.009083477155054956
Unilateral renal hypoplasia 0.009083477155054956
Underfolded superior helices 0.009083477155054956
Central hypoventilation 0.009083477155054956
Woolly hair 0.009083477155054956
Joint contracture of the 3rd finger 0.009083477155054956
Joint contracture of the 4th finger 0.009083477155054956
Pelvic bone asymmetry 0.009083477155054956
Congenital malformation of the great arteries 0.009083477155054956
Congenital Horner syndrome 0.009083477155054956
Panhypogammaglobulinemia 0.009083477155054956
Bitemporal hollowing 0.009083477155054956
Acute leukemia 0.009083477155054956
Unilateral conductive hearing impairment 0.009083477155054956
Nonprogressive cerebellar ataxia 0.009083477155054956
Tracheal stenosis 0.009083477155054956
Reduced visual acuity 0.009083477155054956
Prominent palmar flexion creases 0.009083477155054956
Growth hormone excess 0.009083477155054956
Abdominal obesity 0.009083477155054956
Burkitt lymphoma 0.009083477155054956
Spastic gait 0.009083477155054956
Acrania 0.009083477155054956
Complete atrioventricular canal defect 0.009083477155054956
Vocal cord paresis 0.009083477155054956
Hooded upper eyelid 0.009083477155054956
Capillary malformation 0.009083477155054956
Submucous cleft of soft and hard palate 0.009083477155054956
Ureter duplex 0.009083477155054956
Neonatal inspiratory stridor 0.009083477155054956
Primary congenital glaucoma 0.009083477155054956
Scaphocephaly 0.009083477155054956
Stuttering 0.009083477155054956
Clinodactyly of the thumb 0.009083477155054956
Absent hallux 0.009083477155054956
Atypical nevus 0.009083477155054956
Enlarged tonsils 0.009083477155054956
Intraventricular hemorrhage 0.009083477155054956
Appendicular hypotonia 0.009083477155054956
ST segment elevation 0.009083477155054956
Ventricular fibrillation 0.009083477155054956
Ventricular tachycardia 0.009083477155054956
Left ventricular noncompaction 0.009083477155054956
Rectovestibular fistula 0.009083477155054956
Purpura 0.009083477155054956
Hypoplasia of the olfactory bulb 0.009083477155054956
Poor visual behavior for age 0.009083477155054956
Decreased activity of mitochondrial complex IV 0.009083477155054956
Myalgia 0.009083477155054956
Mild hearing impairment 0.009083477155054956
Facial paralysis 0.009083477155054956
Pilonidal abscess 0.009083477155054956
Cerebral ischemia 0.009083477155054956
Pulmonary valve defects 0.009083477155054956
Abnormality of body height 0.009083477155054956
Short ear 0.009083477155054956
Intrauterine fetal demise of one twin after midgestation 0.009083477155054956
Macular hyperpigmented dermopathy 0.009083477155054956
Cochlear malformation 0.009083477155054956
Short upper lip 0.009083477155054956
Congenital shortened small intestine 0.009083477155054956
Suicidal ideation 0.009083477155054956
Dysdiadochokinesis 0.009083477155054956
Hyporeflexia of upper limbs 0.009083477155054956
Limb tremor 0.009083477155054956
Mixed astigmatism 0.009083477155054956
Persistent left superior vena cava 0.009083477155054956
Myofibrillar myopathy 0.009083477155054956
Oculomotor nerve palsy 0.009083477155054956
Episodic paroxysmal anxiety 0.009083477155054956
Spontaneous abortion 0.009083477155054956
Euryblepharon 0.009083477155054956
Increased body mass index 0.009083477155054956
Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis 0.009083477155054956
EEG with temporal focal spikes 0.009083477155054956
Abnormality of the fetal cardiovascular system 0.009083477155054956
Sclerosing cholangitis 0.009083477155054956
Paroxysmal bursts of laughter 0.009083477155054956
Hypoxemia 0.009083477155054956
Periventricular cysts 0.009083477155054956
Anterior encephalocele 0.009083477155054956
Recurrent corneal erosions 0.009083477155054956
Colonic atresia 0.009083477155054956
Large sella turcica 0.009083477155054956
Abnormal vitreous humor morphology 0.009083477155054956
Flaring of rib cage 0.009083477155054956
Unossified vertebral bodies 0.009083477155054956
Macular degeneration 0.009083477155054956
Ulnar bowing 0.009083477155054956
Abnormality of the auditory canal 0.009083477155054956
Abnormality of the knee 0.009083477155054956
Absent eyebrow 0.009083477155054956
J-shaped sella turcica 0.009083477155054956
Bladder diverticulum 0.009083477155054956
Telangiectasia of the skin 0.009083477155054956
Retinal degeneration 0.009083477155054956
Spinal muscular atrophy 0.009083477155054956
Limitation of movement at ankles 0.009083477155054956
Ablepharon 0.009083477155054956
Neoplasm of the thyroid gland 0.009083477155054956
Hematuria 0.009083477155054956
Premature graying of hair 0.009083477155054956
Alopecia totalis 0.009083477155054956
Abnormality of the pubic bone 0.009083477155054956
B lymphocytopenia 0.009083477155054956
Large placenta 0.009083477155054956
Abnormality of neutrophils 0.009083477155054956
Spinal cord tumor 0.009083477155054956
Xanthomatosis 0.009083477155054956
Stenosis of the medullary cavity of the long bones 0.009083477155054956
Corneal asymmetry 0.009083477155054956
Proboscis 0.009083477155054956
Proximal placement of hallux 0.009083477155054956
Mask-like facies 0.009083477155054956
Abnormal jejunum morphology 0.009083477155054956
Microcoria 0.009083477155054956
Triangular-shaped open mouth 0.009083477155054956
Motor polyneuropathy 0.009083477155054956
Polyuria 0.009083477155054956
Macule 0.009083477155054956
Setting-sun eye phenomenon 0.009083477155054956
Late chronotype 0.009083477155054956
Myocarditis 0.009083477155054956
Nocturnal seizures 0.009083477155054956
Hernia 0.009083477155054956
Sex reversal 0.009083477155054956
Stellate iris 0.009083477155054956
Digital flexor tenosynovitis 0.009083477155054956
Mesomelia 0.009083477155054956
Tonic seizure 0.009083477155054956
Aplasia/Hypoplasia involving the pelvis 0.009083477155054956
Adenoma sebaceum 0.009083477155054956
Subependymal nodules 0.009083477155054956
Bilateral superior vena cava with bridging vein 0.004541738577527478
Trichorrhexis nodosa 0.004541738577527478
Bowing of the long bones 0.004541738577527478
Abnormal greater sciatic notch morphology 0.004541738577527478
Abnormal salivary gland morphology 0.004541738577527478
Aplasia/Hypoplasia of the tragus 0.004541738577527478
Periorbital hyperpigmentation 0.004541738577527478
Thrombocytosis 0.004541738577527478
Amniotic constriction rings of legs 0.004541738577527478
Aplasia/hypoplasia involving bones of the upper limbs 0.004541738577527478
Trident hand 0.004541738577527478
Spinal myoclonus 0.004541738577527478
Facial telangiectasia 0.004541738577527478
Secondary hyperparathyroidism 0.004541738577527478
Abnormality of long bone morphology 0.004541738577527478
Cerebral germinoma 0.004541738577527478
Abnormal patella morphology 0.004541738577527478
Ependymoma 0.004541738577527478
Chronic sinusitis 0.004541738577527478
Lacrimal duct stenosis 0.004541738577527478
EEG with spike-wave complexes (2.5-3.5 Hz) 0.004541738577527478
Ectopia of the spleen 0.004541738577527478
Mirror image hand polydactyly 0.004541738577527478
Talipes cavus equinovarus 0.004541738577527478
Exercise-induced muscle stiffness 0.004541738577527478
Peripheral dysmyelination 0.004541738577527478
Vestibular nystagmus 0.004541738577527478
Beaking of vertebral bodies 0.004541738577527478
Irregular vertebral endplates 0.004541738577527478
Episodic hypersomnia 0.004541738577527478
Deviation of the 4th toe 0.004541738577527478
Pathologic fracture 0.004541738577527478
Proximal tubulopathy 0.004541738577527478
Calf muscle hypoplasia 0.004541738577527478
Abnormality of the humerus 0.004541738577527478
Abnormality of the crus of the helix 0.004541738577527478
Abnormal connection of the cardiac segments 0.004541738577527478
Progressive spasticity 0.004541738577527478
Visual field defect 0.004541738577527478
Abnormal chorioretinal morphology 0.004541738577527478
Multiple palmar creases 0.004541738577527478
Abnormality of the epiphyses of the distal phalanx of finger 0.004541738577527478
Neonatal alloimmune thrombocytopenia 0.004541738577527478
Mottled pigmentation of the trunk and proximal extremities 0.004541738577527478
Proximal muscle weakness in upper limbs 0.004541738577527478
Compensated hypothyroidism 0.004541738577527478
Increased variability in muscle fiber diameter 0.004541738577527478
Type 2 muscle fiber predominance 0.004541738577527478
Hypoplasia of the ventral pons 0.004541738577527478
Sirenomelia 0.004541738577527478
Thoracic hypoplasia 0.004541738577527478
Spondylometaphyseal dysplasia 0.004541738577527478
EEG with multifocal slow activity 0.004541738577527478
Deviation of the hand or of fingers of the hand 0.004541738577527478
Increased connective tissue 0.004541738577527478
Hypoplastic iris stroma 0.004541738577527478
Deep longitudinal plantar crease 0.004541738577527478
Abnormality of metabolism/homeostasis 0.004541738577527478
Lumbar hemivertebrae 0.004541738577527478
Ecchymosis 0.004541738577527478
Antihelical shelf 0.004541738577527478
Hyperinsulinemic hypoglycemia 0.004541738577527478
Hypoplasia of the primary teeth 0.004541738577527478
Focal motor seizure 0.004541738577527478
Nevus flammeus of the forehead 0.004541738577527478
Hemihypotrophy of lower limb 0.004541738577527478
Synostosis involving the 1st metacarpal 0.004541738577527478
Verrucae 0.004541738577527478
High-frequency sensorineural hearing impairment 0.004541738577527478
Bifid epiglottis 0.004541738577527478
Lacrimation abnormality 0.004541738577527478
Aplasia of the middle ear ossicles 0.004541738577527478
Lower extremity joint dislocation 0.004541738577527478
Autoimmune thrombocytopenia 0.004541738577527478
Focal emotional seizure with laughing 0.004541738577527478
Membranous subvalvular aortic stenosis 0.004541738577527478
Akinesia 0.004541738577527478
Fourth cranial nerve palsy 0.004541738577527478
Atrophy/Degeneration affecting the brainstem 0.004541738577527478
Absent or minimally ossified vertebral bodies 0.004541738577527478
Congenital hypertrophy of left ventricle 0.004541738577527478
Flat capital femoral epiphysis 0.004541738577527478
Curved phalanges of the 5th finger 0.004541738577527478
Abnormal pericardium morphology 0.004541738577527478
Cherry red spot of the macula 0.004541738577527478
Cone-shaped metacarpal epiphyses 0.004541738577527478
Reduced antithrombin III activity 0.004541738577527478
Shortening of all metacarpals 0.004541738577527478
Shortening of all middle phalanges of the fingers 0.004541738577527478
Abnormality of the dentate nucleus 0.004541738577527478
Short middle phalanx of the 4th finger 0.004541738577527478
Short middle phalanx of the 5th finger 0.004541738577527478
Abnormality of fibula morphology 0.004541738577527478
Bowed humerus 0.004541738577527478
Abnormality of subcutaneous fat tissue 0.004541738577527478
Peroneal muscle weakness 0.004541738577527478
Choroid plexus calcification 0.004541738577527478
Increased intracranial pressure 0.004541738577527478
Abnormal hard palate morphology 0.004541738577527478
Sparse anterior scalp hair 0.004541738577527478
Focal T2 hyperintense basal ganglia lesion 0.004541738577527478
Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines 0.004541738577527478
Glioma 0.004541738577527478
Chilblains 0.004541738577527478
Abnormality of primary teeth 0.004541738577527478
Aplasia/Hypoplasia of fingers 0.004541738577527478
Recurrent viral infections 0.004541738577527478
Profound static encephalopathy 0.004541738577527478
EEG with focal slow activity 0.004541738577527478
Rudimentary fibula 0.004541738577527478
EEG with localized low amplitude activity 0.004541738577527478
EEG with polyspike wave complexes 0.004541738577527478
Cone-shaped epiphysis 0.004541738577527478
Hemifacial atrophy 0.004541738577527478
Neoplasm of the endocrine system 0.004541738577527478
Generalized opacification of the cornea 0.004541738577527478
Esophageal stricture 0.004541738577527478
Freckles in sun-exposed areas 0.004541738577527478
Short phalanx of the thumb 0.004541738577527478
Abnormality of the pons 0.004541738577527478
Soft, doughy skin 0.004541738577527478
Spontaneous pain sensation 0.004541738577527478
Gaze-evoked horizontal nystagmus 0.004541738577527478
Hyperorality 0.004541738577527478
Diffuse hepatic steatosis 0.004541738577527478
Primary hypothyroidism 0.004541738577527478
Uninodular goiter 0.004541738577527478
Laterally extended eyebrow 0.004541738577527478
Congenital finger flexion contractures 0.004541738577527478
Contracture of the distal interphalangeal joint of the 2nd toe 0.004541738577527478
Contracture of the distal interphalangeal joint of the 3rd toe 0.004541738577527478
Contracture of the distal interphalangeal joint of the 4th toe 0.004541738577527478
Contractures of the distal interphalangeal joint of the 5th toe 0.004541738577527478
Decreased palmar creases 0.004541738577527478
Ulnar deviated club hands 0.004541738577527478
Double tooth 0.004541738577527478
Deviation of the thumb 0.004541738577527478
Short mandibular rami 0.004541738577527478
Generalized hyperpigmentation 0.004541738577527478
Shoulder dystocia 0.004541738577527478
Progressive neurologic deterioration 0.004541738577527478
Corneal dystrophy 0.004541738577527478
Tall lumbar vertebral bodies 0.004541738577527478
Nasal mucosa telangiectasia 0.004541738577527478
EEG with abnormally slow frequencies 0.004541738577527478
Severely reduced visual acuity 0.004541738577527478
Abnormality of facial musculature 0.004541738577527478
Joint stiffness 0.004541738577527478
Moderate generalized osteoporosis 0.004541738577527478
Epistaxis 0.004541738577527478
Malignant hyperthermia 0.004541738577527478
Abnormality of the brainstem white matter 0.004541738577527478
Impaired feeding ability 0.004541738577527478
Peripheral axonal atrophy 0.004541738577527478
Mild proteinuria 0.004541738577527478
Shortening of all phalanges of the toes 0.004541738577527478
Unilateral renal dysplasia 0.004541738577527478
Abnormality of adrenal morphology 0.004541738577527478
Transient nephrotic syndrome 0.004541738577527478
Abnormality of urine calcium concentration 0.004541738577527478
Increased urinary potassium 0.004541738577527478
Pituitary hypothyroidism 0.004541738577527478
Increased subcutaneous truncal adipose tissue 0.004541738577527478
Focal tonic seizure 0.004541738577527478
Dilated fourth ventricle 0.004541738577527478
Dysgenesis of the cerebellar vermis 0.004541738577527478
Polydactyly affecting the 4th toe 0.004541738577527478
Absent tibia 0.004541738577527478
Fibular aplasia 0.004541738577527478
Flexion contracture of the 4th toe 0.004541738577527478
Atypical neurofibromatosis 0.004541738577527478
Abnormality of the nasal cavity 0.004541738577527478
Hypopigmented skin patches on arms 0.004541738577527478
Apical muscular ventricular septal defect 0.004541738577527478
Persistent patent ductus venosus 0.004541738577527478
Aplasia/Hypoplasia involving the vertebral column 0.004541738577527478
Irregularity of vertebral bodies 0.004541738577527478
Jerky head movements 0.004541738577527478
Congenital abnormal hair pattern 0.004541738577527478
Ovarian gonadoblastoma 0.004541738577527478
Accessory spleen 0.004541738577527478
Pulmonary situs ambiguus with bilateral morphologic right lungs 0.004541738577527478
Progressive inability to walk 0.004541738577527478
Abnormal echocardiogram 0.004541738577527478
Interphalangeal joint contracture of finger 0.004541738577527478
Clinodactyly of the 2nd toe 0.004541738577527478
Limited elbow extension and supination 0.004541738577527478
Abnormality of joint mobility 0.004541738577527478
Hypoplastic 5th lumbar vertebrae 0.004541738577527478
Bilateral triphalangeal thumbs 0.004541738577527478
Discrete 2 to 5-mm hyper- and hypopigmented macules 0.004541738577527478
Absent nares 0.004541738577527478
Stomach cancer 0.004541738577527478
Aplasia/Hypoplasia of the 1st metacarpal 0.004541738577527478
Cryptophthalmos 0.004541738577527478
Nevus sebaceous 0.004541738577527478
Underdeveloped tragus 0.004541738577527478
Elbow ankylosis 0.004541738577527478
Spontaneous, recurrent epistaxis 0.004541738577527478
Absent antihelix 0.004541738577527478
Aplasia of the proximal phalanx of the 5th finger 0.004541738577527478
Short phalanx of the 4th toe 0.004541738577527478
Short phalanx of the 5th toe 0.004541738577527478
Internal carotid artery hypoplasia 0.004541738577527478
Multiple suture craniosynostosis 0.004541738577527478
Aplasia cutis congenita over posterior parietal area 0.004541738577527478
Abnormal left ventricular outflow tract morphology 0.004541738577527478
Abnormal length of corpus callosum 0.004541738577527478
Spondyloepimetaphyseal dysplasia 0.004541738577527478
Arteriovenous malformation 0.004541738577527478
Ileus 0.004541738577527478
Widely patent fontanelles and sutures 0.004541738577527478
Hemisacrum 0.004541738577527478
Midnasal stenosis 0.004541738577527478
Agenesis of incisor 0.004541738577527478
Abnormality of ocular smooth pursuit 0.004541738577527478
Congenital megaureter 0.004541738577527478
Prominent nasolabial fold 0.004541738577527478
Proximal fibular overgrowth 0.004541738577527478
Thoracic kyphoscoliosis 0.004541738577527478
Methylmalonic acidemia 0.004541738577527478
Leukonychia 0.004541738577527478
Duplication of thumb phalanx 0.004541738577527478
Decreased lacrimation 0.004541738577527478
Aplasia/hypoplasia involving the skeleton 0.004541738577527478
Psychotic mentation 0.004541738577527478
Humoral immunodeficiency 0.004541738577527478
Spinal canal stenosis 0.004541738577527478
Aplasia/Hypoplasia of the distal phalanx of the 5th finger 0.004541738577527478
Widely-spaced maxillary central incisors 0.004541738577527478
Hypoplasia of the vestibular nerve 0.004541738577527478
Prostate cancer 0.004541738577527478
Myokymia 0.004541738577527478
Parathyroid hyperplasia 0.004541738577527478
Localized neuroblastoma 0.004541738577527478
Progressive external ophthalmoplegia 0.004541738577527478
Absent foot 0.004541738577527478
Reactive hypoglycemia 0.004541738577527478
Hypoplasia of the cochlea 0.004541738577527478
Incomplete partition of the cochlea 0.004541738577527478
Branchial sinus 0.004541738577527478
Short dental roots 0.004541738577527478
Macular hypopigmented whorls, streaks, and patches 0.004541738577527478
Lymphopenia 0.004541738577527478
Recurrent fever 0.004541738577527478
Delayed peripheral myelination 0.004541738577527478
Elevated alkaline phosphatase of hepatic origin 0.004541738577527478
Pigment gallstones 0.004541738577527478
Progressive alopecia 0.004541738577527478
Tapered phalanx of finger 0.004541738577527478
Type B brachydactyly 0.004541738577527478
Crossed fused renal ectopia 0.004541738577527478
Mottled pigmentation 0.004541738577527478
Ulnar deviation of the wrist 0.004541738577527478
Abnormal epiglottis morphology 0.004541738577527478
Calvarial skull defect 0.004541738577527478
Nausea and vomiting 0.004541738577527478
Pancreatitis 0.004541738577527478
Selective tooth agenesis 0.004541738577527478
Abnormality of the hypothenar eminence 0.004541738577527478
Hemiplegia/hemiparesis 0.004541738577527478
Lower limb phocomelia 0.004541738577527478
Upper limb phocomelia 0.004541738577527478
Aplastic/hypoplastic lacrimal glands 0.004541738577527478
Abnormality of the mastoid 0.004541738577527478
Enlarged epiphyses of the toes 0.004541738577527478
Enlarged thumb epiphysis 0.004541738577527478
Abnormal renal medulla morphology 0.004541738577527478
Low-frequency sensorineural hearing impairment 0.004541738577527478
Bronchogenic cyst 0.004541738577527478
Urinary hesitancy 0.004541738577527478
Prominent digit pad 0.004541738577527478
High maternal serum chorionic gonadotropin 0.004541738577527478
Low maternal serum alpha-fetoprotein 0.004541738577527478
Recurrent bacterial infections 0.004541738577527478
Advanced ossification of the hand bones 0.004541738577527478
Profuse pigmented skin lesions 0.004541738577527478
Low-set nipples 0.004541738577527478
Ketosis 0.004541738577527478
Large cafe-au-lait macules with irregular margins 0.004541738577527478
Abnormal branching pattern of the aortic arch 0.004541738577527478
Hypoplastic pulmonary veins 0.004541738577527478
Incomplete cleft of the upper lip 0.004541738577527478
Stahl ear 0.004541738577527478
Ambiguous genitalia, female 0.004541738577527478
Abnormality of dental eruption 0.004541738577527478
Nausea 0.004541738577527478
Urethral obstruction 0.004541738577527478
Abnormality of humoral immunity 0.004541738577527478
Atrophy/Degeneration affecting the cerebrum 0.004541738577527478
Malformed lacrimal duct 0.004541738577527478
Thickened cortex of long bones 0.004541738577527478
Abnormal cry 0.004541738577527478
Basilar invagination 0.004541738577527478
Cortical cataract 0.004541738577527478
Decreased glomerular filtration rate 0.004541738577527478
Hair-pulling 0.004541738577527478
Ectopic ovary 0.004541738577527478
1-minute APGAR score of 2 0.004541738577527478
5-minute APGAR score of 6 0.004541738577527478
Meconium stained amniotic fluid 0.004541738577527478
Flared nostrils 0.004541738577527478
Hypocalcemic seizures 0.004541738577527478
Nuchal cord 0.004541738577527478
Abnormal tendon morphology 0.004541738577527478
Exencephaly 0.004541738577527478
Neck muscle weakness 0.004541738577527478
Short distal phalanx of hallux 0.004541738577527478
Short distal phalanx of the 2nd finger 0.004541738577527478
Short distal phalanx of toe 0.004541738577527478
Short first metatarsal 0.004541738577527478
Hypernatremia 0.004541738577527478
Abnormality of the gastrointestinal tract 0.004541738577527478
Abnormal renal collecting system morphology 0.004541738577527478
No permanent dentition 0.004541738577527478
Slow-growing nails 0.004541738577527478
Upper limb muscle weakness 0.004541738577527478
Localized skin lesion 0.004541738577527478
Abnormality of the orbital region 0.004541738577527478
Retinal dysplasia 0.004541738577527478
Telangiectases producing 'marbled' skin 0.004541738577527478
Hypoplasia of the ulna 0.004541738577527478
Postaxial oligodactyly 0.004541738577527478
Generalized muscular appearance from birth 0.004541738577527478
Hyperpigmented genitalia 0.004541738577527478
Delayed ossification of the hand bones 0.004541738577527478
Periodontitis 0.004541738577527478
Distal upper limb muscle weakness 0.004541738577527478
Proximal muscle weakness in lower limbs 0.004541738577527478
Restrictive ventricular septal defect 0.004541738577527478
Midfrontal capillary hemangioma 0.004541738577527478
Medullary nephrocalcinosis 0.004541738577527478
Mongolian blue spot 0.004541738577527478
Pallor 0.004541738577527478
High insertion of columella 0.004541738577527478
Abnormal speech discrimination 0.004541738577527478
Nonimmune hydrops fetalis 0.004541738577527478
Generalized weakness of limb muscles 0.004541738577527478
Episodic ammonia intoxication 0.004541738577527478
Labial hypertrophy 0.004541738577527478
Contractures of the large joints 0.004541738577527478
Partial atrioventricular canal defect 0.004541738577527478
Endocardial fibroelastosis 0.004541738577527478
Visual loss 0.004541738577527478
Limitation of joint mobility 0.004541738577527478
Abnormal hypothalamus morphology 0.004541738577527478
Nasal obstruction 0.004541738577527478
Prominent nipples 0.004541738577527478
Abnormality of the pulmonary veins 0.004541738577527478
Broad alveolar ridges 0.004541738577527478
Congenital hemolytic anemia 0.004541738577527478
Pursed lips 0.004541738577527478
Colitis 0.004541738577527478
Long upper eyelashes 0.004541738577527478
Bowing of the legs 0.004541738577527478
Drug-sensitive hemolytic anemia 0.004541738577527478
Hypoplastic sacrum 0.004541738577527478
Horizontal jerk nystagmus 0.004541738577527478
Narrow internal auditory canal 0.004541738577527478
Bifid nose 0.004541738577527478
Hemangioblastoma 0.004541738577527478
Pustule 0.004541738577527478
Recurrent bacterial skin infections 0.004541738577527478
High-output congestive heart failure 0.004541738577527478
Abnormal tricuspid valve morphology 0.004541738577527478
Concentric hypertrophic cardiomyopathy 0.004541738577527478
Abnormality of the intrahepatic bile duct 0.004541738577527478
Aplasia/Hypoplasia of the pancreas 0.004541738577527478
Sydney crease 0.004541738577527478
3-5 finger syndactyly 0.004541738577527478
Upper limb metaphyseal widening 0.004541738577527478
Absent gallbladder 0.004541738577527478
Sacral hypertrichosis 0.004541738577527478
Hypomagnesemia 0.004541738577527478
Juvenile rheumatoid arthritis 0.004541738577527478
Cerebral white matter agenesis 0.004541738577527478
Central heterochromia 0.004541738577527478
Aplasia/Hypoplasia of the optic tract 0.004541738577527478
Contracture of the proximal interphalangeal joint of the 4th finger 0.004541738577527478
Multiple gastric polyps 0.004541738577527478
Abnormal finger flexion creases 0.004541738577527478
Fetal choroid plexus cysts 0.004541738577527478
Congenital portosystemic venous shunt 0.004541738577527478
Abnormal carotid artery morphology 0.004541738577527478
Atrophy/Degeneration affecting the central nervous system 0.004541738577527478
Ganglioneuroblastoma 0.004541738577527478
Abnormal glucose homeostasis 0.004541738577527478
Abnormalities of placenta or umbilical cord 0.004541738577527478
Central sleep apnea 0.004541738577527478
Enlarged epiphyses of the distal phalanges of the hand 0.004541738577527478
Abnormal anterior eye segment morphology 0.004541738577527478
Acetabular dysplasia 0.004541738577527478
Anomalous splenoportal venous system 0.004541738577527478
Portal hypertension 0.004541738577527478
Palmoplantar keratoderma 0.004541738577527478
2nd-5th toe middle phalangeal hypoplasia 0.004541738577527478
Abnormality of the fontanelles or cranial sutures 0.004541738577527478
Cleft in skull base 0.004541738577527478
Nonketotic hypoglycemia 0.004541738577527478
Cor triatriatum 0.004541738577527478
Prolonged QTc interval 0.004541738577527478
Meconium ileus 0.004541738577527478
Transient global amnesia 0.004541738577527478
Increased circulating ferritin concentration 0.004541738577527478
Abnormality of the phalanges of the 5th toe 0.004541738577527478
Calcification of the auricular cartilage 0.004541738577527478
Acromesomelia 0.004541738577527478
Aplasia/Hypoplasia of the lungs 0.004541738577527478
Double inlet left ventricle 0.004541738577527478
Univentricular heart with absent left sided atrioventricular connection 0.004541738577527478
Abnormality of the upper arm 0.004541738577527478
Amniotic constriction ring 0.004541738577527478
Abnormality of skull size 0.004541738577527478
Abnormal soft palate morphology 0.004541738577527478
Progeroid facial appearance 0.004541738577527478
Axial muscle weakness 0.004541738577527478
Abnormality of the plantar skin of foot 0.004541738577527478
Abnormal right ventricle morphology 0.004541738577527478
Foot dorsiflexor weakness 0.004541738577527478
Impaired platelet aggregation 0.004541738577527478
Thin anteverted nares 0.004541738577527478
Brainstem dysplasia 0.004541738577527478
Progressive choreoathetosis 0.004541738577527478
Diffuse demyelination of the cerebral white matter 0.004541738577527478
Hepatic fibrosis 0.004541738577527478
Abnormal middle phalanx morphology of the hand 0.004541738577527478
Polycythemia 0.004541738577527478
Bulging epiphyses 0.004541738577527478
Abnormal circulating glutamine concentration 0.004541738577527478
Subcortical white matter calcifications 0.004541738577527478
Diffuse nuclear cataract 0.004541738577527478
Myelodysplasia 0.004541738577527478
Multiple epiphyseal dysplasia 0.004541738577527478
Neonatal cholestatic liver disease 0.004541738577527478
Absence of subcutaneous fat 0.004541738577527478
Cerebral hamartoma 0.004541738577527478
Paroxysmal dystonia 0.004541738577527478
Pulmonary artery dilatation 0.004541738577527478
Gonadal hypoplasia 0.004541738577527478
Autosomal dominant inheritance 0.004541738577527478
Recurrent bronchopulmonary infections 0.004541738577527478
Congenital thrombocytopenia 0.004541738577527478
Urinary bladder inflammation 0.004541738577527478
Cholestatic liver disease 0.004541738577527478
Ketoacidosis 0.004541738577527478
Coarctation of abdominal aorta 0.004541738577527478
Infantile onset 0.004541738577527478
Hidrotic ectodermal dysplasia 0.004541738577527478
Keloids 0.004541738577527478
Paralysis 0.004541738577527478
Type II lissencephaly 0.004541738577527478
Muscle stiffness 0.004541738577527478
Scarring 0.004541738577527478
Abnormality of salivation 0.004541738577527478
Age-related cataract 0.004541738577527478
Insulin resistance 0.004541738577527478
Presenile cataracts 0.004541738577527478
Urogenital sinus anomaly 0.004541738577527478
Atrophy of the spinal cord 0.004541738577527478
Mitochondrial myopathy 0.004541738577527478
Abnormality of dermal melanosomes 0.004541738577527478
Total intestinal aganglionosis 0.004541738577527478
Glenoid fossa hypoplasia 0.004541738577527478
Abnormal circulating cholesterol concentration 0.004541738577527478
Hypohidrotic ectodermal dysplasia 0.004541738577527478
Parietal bossing 0.004541738577527478
Cerebellar glioma 0.004541738577527478
Broad skull 0.004541738577527478
Abnormality of the abdominal organs 0.004541738577527478
Abnormality of the biliary system 0.004541738577527478
Imbalanced hemoglobin synthesis 0.004541738577527478
Distal shortening of limbs 0.004541738577527478
Abnormal vena cava morphology 0.004541738577527478
Abnormality of the 4th metacarpal 0.004541738577527478
Progressive spastic paraparesis 0.004541738577527478
Abnormality of the cerebral subcortex 0.004541738577527478
Cutaneous syndactyly between fingers 2 and 5 0.004541738577527478
Cerebral white matter hypoplasia 0.004541738577527478
Abnormality of mitochondrial metabolism 0.004541738577527478
Male infertility 0.004541738577527478
Chin with horizontal crease 0.004541738577527478
Recurrent aspiration pneumonia 0.004541738577527478
Abnormality of femur morphology 0.004541738577527478
Vein of Galen aneurysmal malformation 0.004541738577527478
Patchy demyelination of subcortical white matter 0.004541738577527478
Premature atrial contractions 0.004541738577527478
Abnormality of umbilical vein blood flow 0.004541738577527478
Angioedema 0.004541738577527478
Retinal hemorrhage 0.004541738577527478
Round ear 0.004541738577527478
Conical tooth 0.004541738577527478
Abnormality of lower limb joint 0.004541738577527478
Abnormality of the calcaneus 0.004541738577527478
Increased facial adipose tissue 0.004541738577527478
Progressive gait ataxia 0.004541738577527478
Systemic lupus erythematosus 0.004541738577527478
Premature arteriosclerosis 0.004541738577527478
Retinal vascular malformation 0.004541738577527478
Curved 4th toe phalanx 0.004541738577527478
Curved 5th toe phalanx 0.004541738577527478
Diabetes insipidus 0.004541738577527478
Pulmonary fibrosis 0.004541738577527478
Partial duplication of thumb phalanx 0.004541738577527478
S-shaped palpebral fissures 0.004541738577527478
Conical mandibular incisor 0.004541738577527478
Genital tract atresia 0.004541738577527478
True hermaphroditism 0.004541738577527478
Impotence 0.004541738577527478
Pendular nystagmus 0.004541738577527478
Postnatal cystic hygroma 0.004541738577527478
Low-frequency hearing loss 0.004541738577527478
Abnormality of the pharynx 0.004541738577527478
Limb pain 0.004541738577527478
Gonadal dysgenesis with female appearance, male 0.004541738577527478
Short proximal phalanx of thumb 0.004541738577527478
Asplenia 0.004541738577527478
Intestinal polyposis 0.004541738577527478
EMG: axonal abnormality 0.004541738577527478
Impaired smooth pursuit 0.004541738577527478
Upper airway obstruction 0.004541738577527478
Diffuse cerebral calcification 0.004541738577527478
Dilated third ventricle 0.004541738577527478
Urethrocele 0.004541738577527478
Dry hair 0.004541738577527478
3-4 finger cutaneous syndactyly 0.004541738577527478
Primary adrenal insufficiency 0.004541738577527478
Long clavicles 0.004541738577527478
Undulate clavicles 0.004541738577527478
Acute rhabdomyolysis 0.004541738577527478
Telangiectases of the cheeks 0.004541738577527478
Lumbar interpedicular narrowing 0.004541738577527478
Posterior scalloping of vertebral bodies 0.004541738577527478
Amenorrhea 0.004541738577527478
Ectopia cordis 0.004541738577527478
Type A brachydactyly 0.004541738577527478
Bilateral basal ganglia lesions 0.004541738577527478
Symphalangism affecting the phalanges of the toes 0.004541738577527478
Posterior pituitary agenesis 0.004541738577527478
Aplasia/Hypoplasia of the 5th finger 0.004541738577527478
Nonopposable triphalangeal thumb 0.004541738577527478
Atlantoaxial dislocation 0.004541738577527478
C1-C2 vertebral abnormality 0.004541738577527478
Bilateral ductus arteriosus 0.004541738577527478
Central hypothyroidism 0.004541738577527478
Hypopigmentation of the fundus 0.004541738577527478
Tongue thrusting 0.004541738577527478
Abnormality of the menstrual cycle 0.004541738577527478
Curved middle phalanx of the 5th finger 0.004541738577527478
Patellar aplasia 0.004541738577527478
Elevated circulating parathyroid hormone level 0.004541738577527478
Flexion contracture of the hallux 0.004541738577527478
Radioulnar dislocation 0.004541738577527478
Ovoid vertebral bodies 0.004541738577527478
Pilonidal sinus 0.004541738577527478
Septic arthritis 0.004541738577527478
Morphological abnormality of the inner ear 0.004541738577527478
Abnormal rapid eye movement sleep 0.004541738577527478
Recurrent tonsillitis 0.004541738577527478
Intermittent diarrhea 0.004541738577527478
Childhood onset short-limb short stature 0.004541738577527478
Aplasia/Hypoplasia involving bones of the feet 0.004541738577527478
Dysuria 0.004541738577527478
High-pitched cry 0.004541738577527478
Left unicoronal synostosis 0.004541738577527478
Recurrent patellar dislocation 0.004541738577527478
Right unilambdoid synostosis 0.004541738577527478
Talipes calcaneovalgus 0.004541738577527478
Rheumatoid arthritis 0.004541738577527478
Supraventricular arrhythmia 0.004541738577527478
Generalized aminoaciduria 0.004541738577527478
Paroxysmal atrial fibrillation 0.004541738577527478
Abnormality of the phalanges of the hallux 0.004541738577527478
Drusen 0.004541738577527478
Axial malrotation of the kidney 0.004541738577527478
Posterior capsular cataract 0.004541738577527478
Premature loss of permanent teeth 0.004541738577527478
Contracture of the distal interphalangeal joint of the 5th finger 0.004541738577527478
Pseudohypoparathyroidism 0.004541738577527478
Recurrent cutaneous abscess formation 0.004541738577527478
Slender nose 0.004541738577527478
Abnormality of the 2nd metacarpal 0.004541738577527478
Freckling 0.004541738577527478
Agenesis of pulmonary vessels 0.004541738577527478
Abnormal spermatogenesis 0.004541738577527478
Hypoplastic left atrium 0.004541738577527478
Poikiloderma 0.004541738577527478
Flexion contracture of toe 0.004541738577527478
Absent proximal finger flexion creases 0.004541738577527478
Limb dystonia 0.004541738577527478
Supernumerary maxillary incisor 0.004541738577527478
Abnormal renal pelvis morphology 0.004541738577527478
Prominent protruding coccyx 0.004541738577527478
Chin with H-shaped crease 0.004541738577527478
Bronchiolitis obliterans 0.004541738577527478
Ventricular septal hypertrophy 0.004541738577527478
Eclampsia 0.004541738577527478
Abnormality of ocular abduction 0.004541738577527478
Premature delivery because of cervical insufficiency or membrane fragility 0.004541738577527478
Maternal diabetes 0.004541738577527478
Generalized keratosis follicularis 0.004541738577527478
Swelling of proximal interphalangeal joints 0.004541738577527478
Short humerus 0.004541738577527478
Type A1 brachydactyly 0.004541738577527478
Papillary thyroid carcinoma 0.004541738577527478
Renal cell carcinoma 0.004541738577527478
Acne inversa 0.004541738577527478
Duplication of the phalanges of the 2nd toe 0.004541738577527478
Aplasia/Hypoplasia of the middle phalanges of the toes 0.004541738577527478
Unerupted tooth 0.004541738577527478
Curved hallux phalanx 0.004541738577527478
Premature loss of teeth 0.004541738577527478
Hemangiomatosis 0.004541738577527478
Moderate conductive hearing impairment 0.004541738577527478
Abnormal posterior cranial fossa morphology 0.004541738577527478
Aplasia of the distal phalanges of the hand 0.004541738577527478
Aplasia/Hypoplasia of the distal phalanx of the 2nd finger 0.004541738577527478
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger 0.004541738577527478
Intussusception 0.004541738577527478
Bilateral tonic-clonic seizure on awakening 0.004541738577527478
Absent forearm 0.004541738577527478
Vitamin B12 deficiency 0.004541738577527478
Abnormal EKG 0.004541738577527478
Aplasia/Hypoplasia of the 4th metacarpal 0.004541738577527478
Aplasia/Hypoplasia of the 5th metacarpal 0.004541738577527478
Preductal coarctation of the aorta 0.004541738577527478
Lipomatous tumor 0.004541738577527478
Aplasia/Hypoplasia of the phalanges of the 4th toe 0.004541738577527478
Prominent frontal sinuses 0.004541738577527478
Decreased CSF homovanillic acid 0.004541738577527478
Increased serum pyruvate 0.004541738577527478
Abnormality of the thenar eminence 0.004541738577527478
Generalized microdontia 0.004541738577527478
Abnormality of the middle phalanx of the 3rd finger 0.004541738577527478
Abnormality of the skull base 0.004541738577527478
Decreased patellar reflex 0.004541738577527478
Lack of spontaneous play 0.004541738577527478
Thickened ribs 0.004541738577527478
Marked delay in eruption of permanent teeth 0.004541738577527478
Abnormal pancreas morphology 0.004541738577527478
Brachyturricephaly 0.004541738577527478
Generalized amyotrophy 0.004541738577527478
Typical absence seizure 0.004541738577527478
Cardiac arrest 0.004541738577527478
Contracture of the proximal interphalangeal joint of the 2nd finger 0.004541738577527478
Increased mean corpuscular volume 0.004541738577527478
Corticospinal tract atrophy 0.004541738577527478
Hypothalamic hamartoma 0.004541738577527478
Retroperitoneal chemodectomas 0.004541738577527478
Diabetic ketoacidosis 0.004541738577527478
Early cutaneous photosensitivity 0.004541738577527478
Abnormal stool composition 0.004541738577527478
Odontogenic keratocysts of the jaw 0.004541738577527478
Aortic tortuosity 0.004541738577527478
Arrhinencephaly 0.004541738577527478
Abnormality of canine 0.004541738577527478
Temperature instability 0.004541738577527478
Radial deviation of the thumb 0.004541738577527478
Facial shape deformation 0.004541738577527478
Clinodactyly of the 2nd finger 0.004541738577527478
Congenitally corrected transposition of the great arteries with ventricular septal defect 0.004541738577527478
Genital hernia 0.004541738577527478
Total anosmia 0.004541738577527478
Allergy 0.004541738577527478
Aplasia/Hypoplasia of the 3rd toe 0.004541738577527478
Aplasia/Hypoplasia of the 4th toe 0.004541738577527478
Aplasia/Hypoplasia of the phalanges of the thumb 0.004541738577527478
Cutaneous syndactyly 0.004541738577527478
Bilateral renal hypoplasia 0.004541738577527478
Recurrent upper and lower respiratory tract infections 0.004541738577527478
Patchy hypo- and hyperpigmentation 0.004541738577527478
Aplasia/Hypoplasia of the cerebrum 0.004541738577527478
Abnormal number of incisors 0.004541738577527478
Aortopulmonary window 0.004541738577527478
Peripheral axonal neuropathy 0.004541738577527478
Supracardiac total anomalous pulmonary venous connection 0.004541738577527478
Onychogryposis of toenails 0.004541738577527478
Polydipsia 0.004541738577527478
Early onset absence seizures 0.004541738577527478
Tapered distal phalanges of finger 0.004541738577527478
Normocytic anemia 0.004541738577527478
Neurodegeneration 0.004541738577527478
Cerebral white matter atrophy 0.004541738577527478
Cardiac conduction abnormality 0.004541738577527478
Common atrium 0.004541738577527478
Left atrial isomerism 0.004541738577527478
Hypotropia 0.004541738577527478
Long upper lip 0.004541738577527478
Narrow philtrum 0.004541738577527478
Right ventricular dilatation 0.004541738577527478
Abnormal oral glucose tolerance 0.004541738577527478
Chronic hepatitis 0.004541738577527478
Continuous spike and waves during slow sleep 0.004541738577527478
Abnormal substantia nigra morphology 0.004541738577527478
Increased CSF lactate 0.004541738577527478
Sparse body hair 0.004541738577527478
Unilateral hypoplasia of pectoralis major muscle 0.004541738577527478
Hyponasal speech 0.004541738577527478
Gastrointestinal dysmotility 0.004541738577527478
Commissural lip pit 0.004541738577527478
Basal ganglia calcification 0.004541738577527478
Microphallus 0.004541738577527478
Knee clonus 0.004541738577527478
Cone/cone-rod dystrophy 0.004541738577527478
Abnormal atrioventricular valve morphology 0.004541738577527478
Congenital muscular dystrophy 0.004541738577527478
Absence of pubertal development 0.004541738577527478
Hypoventilation 0.004541738577527478
Neonatal short-limb short stature 0.004541738577527478
Renal Fanconi syndrome 0.004541738577527478
Adrenocorticotropic hormone deficiency 0.004541738577527478
Abnormal 4th finger morphology 0.004541738577527478
Auricular pit 0.004541738577527478
Congenital malformation of the left heart 0.004541738577527478
Increased red cell sickling tendency 0.004541738577527478
Skin-picking 0.004541738577527478
Morbus Scheuermann 0.004541738577527478
Dysgerminoma 0.004541738577527478
Abnormality of bone marrow cell morphology 0.004541738577527478
Increased circulating IgE level 0.004541738577527478
Severe T-cell immunodeficiency 0.004541738577527478
Decreased liver function 0.004541738577527478
Dysplasia of the femoral head 0.004541738577527478
Symphalangism affecting the distal phalanx of the 5th toe 0.004541738577527478
Flattening of the talar dome 0.004541738577527478
Prenatal maternal abnormality 0.004541738577527478
Corneal degeneration 0.004541738577527478
Shallow acetabular fossae 0.004541738577527478
Anarthria 0.004541738577527478
Proximal limb muscle stiffness 0.004541738577527478
Foot oligodactyly 0.004541738577527478
Spotty hypopigmentation 0.004541738577527478
Paranoia 0.004541738577527478
Abnormality of hair growth 0.004541738577527478
Midline facial cleft 0.004541738577527478
Anemia of inadequate production 0.004541738577527478
Laryngeal cyst 0.004541738577527478
Fetal ascites 0.004541738577527478
Abnormality of odontoid tissue 0.004541738577527478
Hypoplastic olfactory lobes 0.004541738577527478
Hoarse cry 0.004541738577527478
Abnormal trachea morphology 0.004541738577527478
Proximal muscle weakness 0.004541738577527478
Absent vas deferens 0.004541738577527478
Abnormality of the musculature of the upper limbs 0.004541738577527478
Butterfly vertebral arch 0.004541738577527478
Abnormal size of pituitary gland 0.004541738577527478
Abdominal aortic aneurysm 0.004541738577527478
Narcolepsy 0.004541738577527478
Palmoplantar hyperhidrosis 0.004541738577527478
Prominent interphalangeal joints 0.004541738577527478
Fetal akinesia sequence 0.004541738577527478
Progressive flexion contractures 0.004541738577527478
Episodic hyperhidrosis 0.004541738577527478
Renal tubular dysfunction 0.004541738577527478
Abnormal spaced incisors 0.004541738577527478
Photosensitive myoclonic seizure 0.004541738577527478
Demyelinating motor neuropathy 0.004541738577527478
Demyelinating sensory neuropathy 0.004541738577527478
Progressive peripheral neuropathy 0.004541738577527478
Scrotal hypospadias 0.004541738577527478
Intrahepatic biliary atresia 0.004541738577527478
Bone marrow hypocellularity 0.004541738577527478
T-cell acute lymphoblastic leukemias 0.004541738577527478
Coma 0.004541738577527478
Diaphragmatic weakness 0.004541738577527478
White mater abnormalities in the posterior periventricular region 0.004541738577527478
Happy demeanor 0.004541738577527478
4-layered lissencephaly 0.004541738577527478
Intestinal atresia 0.004541738577527478
Lacrimal duct atresia 0.004541738577527478
Arthropathy 0.004541738577527478
Abnormal fundus morphology 0.004541738577527478
Bilateral renal dysplasia 0.004541738577527478
Dysgenesis of the hippocampus 0.004541738577527478
Abnormal circulating creatine kinase concentration 0.004541738577527478
Entrapment neuropathy 0.004541738577527478
Glucose intolerance 0.004541738577527478
Megalencephaly 0.004541738577527478
Head-banging 0.004541738577527478
Abnormality of the curvature of the vertebral column 0.004541738577527478
Rhinitis 0.004541738577527478
Decreased facial expression 0.004541738577527478
Delayed self-feeding during toddler years 0.004541738577527478
Abnormality of chromosome segregation 0.004541738577527478
Osteoma 0.004541738577527478
Cutaneous myxoma 0.004541738577527478
Pituitary adenoma 0.004541738577527478
Bifid proximal phalanx of the thumb 0.004541738577527478
Microglossia 0.004541738577527478
Bronchiectasis 0.004541738577527478
Euthyroid multinodular goiter 0.004541738577527478
Multiple rib fractures 0.004541738577527478
Echogenic intracardiac focus 0.004541738577527478
Small fontanelle 0.004541738577527478
Increased dermatoglyphic whorls 0.004541738577527478
Abnormal cardiovascular system physiology 0.004541738577527478
Flexion contracture of thumb 0.004541738577527478
Progressive spastic paraplegia 0.004541738577527478
Malnutrition 0.004541738577527478
Polar cataract 0.004541738577527478
Pretragal ectopia 0.004541738577527478
Triangular nasal tip 0.004541738577527478
Long-segment aganglionic megacolon 0.004541738577527478
Focal cognitive seizure 0.004541738577527478
Abnormal nasopharyngeal adenoid morphology 0.004541738577527478
Olivopontocerebellar atrophy 0.004541738577527478
Bilateral multifocal epileptiform discharges 0.004541738577527478
Aplasia/Hypoplasia of the inner ear 0.004541738577527478
Abdominal pain 0.004541738577527478
Ganglioside accumulation 0.004541738577527478
Mucopolysacchariduria 0.004541738577527478
Abnormally ossified vertebrae 0.004541738577527478
Hyperextensible thumb 0.004541738577527478
Abducens palsy 0.004541738577527478
Cementoma 0.004541738577527478
Constrictive median neuropathy 0.004541738577527478
Polycystic ovaries 0.004541738577527478
Anal fissure 0.004541738577527478
Broad distal phalanx of the hallux 0.004541738577527478
Symphalangism of the thumb 0.004541738577527478
Abnormality of the shape of the midface 0.004541738577527478
Aplasia of the nasal bone 0.004541738577527478
Calcific stippling 0.004541738577527478
Calcific stippling of infantile cartilaginous skeleton 0.004541738577527478
Epiphyseal stippling of the humerus 0.004541738577527478
Epiphyseal stippling of the metacarpals 0.004541738577527478
Neonatal epiphyseal stippling 0.004541738577527478
Tarsal stippling 0.004541738577527478
Prominence of the zygomatic bone 0.004541738577527478
Hypochromic microcytic anemia 0.004541738577527478
Abnormal urinary odor 0.004541738577527478
Absent first metatarsal 0.004541738577527478
Increased size of nasopharyngeal adenoids 0.004541738577527478
Macular hyperpigmentation 0.004541738577527478
Wide nasal ridge 0.004541738577527478
Abnormality of the fifth metatarsal bone 0.004541738577527478
Decreased HDL cholesterol concentration 0.004541738577527478
Hypertriglyceridemia 0.004541738577527478
Microtia, first degree 0.004541738577527478
Tachypnea 0.004541738577527478
Cervical lymphadenopathy 0.004541738577527478
Lower limb pain 0.004541738577527478
Hodgkin lymphoma 0.004541738577527478
Abnormality of malar bones 0.004541738577527478
Functional abnormality of the middle ear 0.004541738577527478
Arterial stenosis 0.004541738577527478
Unilateral external ear deformity 0.004541738577527478
Macular hypoplasia 0.004541738577527478
Divergence nystagmus 0.004541738577527478
Morgagni diaphragmatic hernia 0.004541738577527478
Left hemiplegia 0.004541738577527478
Female infertility 0.004541738577527478
Abnormality of lateral rectus extra-ocular muscle 0.004541738577527478
Bifid ureter 0.004541738577527478
Visceromegaly 0.004541738577527478
Synostosis involving the elbow 0.004541738577527478
Abnormal sperm motility 0.004541738577527478
Hypoplasia of the thymus 0.004541738577527478
Lipoatrophy 0.004541738577527478
Recurrent hypoglycemia 0.004541738577527478
Laryngeal web 0.004541738577527478
Complete duplication of thumb phalanx 0.004541738577527478
Abnormality of the shoulder girdle musculature 0.004541738577527478
Upturned corners of mouth 0.004541738577527478
Metabolic alkalosis 0.004541738577527478
Heart block 0.004541738577527478
Holosystolic murmur 0.004541738577527478
Microblepharia 0.004541738577527478
Therapeutic abortion 0.004541738577527478
Microcytic anemia 0.004541738577527478
Abnormality of the distal phalanx of the thumb 0.004541738577527478
Abnormal coronary artery morphology 0.004541738577527478
Abnormal pulmonary artery morphology 0.004541738577527478
Arteriovenous fistulas of celiac and mesenteric vessels 0.004541738577527478
Bronchial atresia 0.004541738577527478
Female external genitalia in individual with 46,XY karyotype 0.004541738577527478
Congenital stationary cone dysfunction 0.004541738577527478
Cephalocele 0.004541738577527478
Abnormality of the incisor 0.004541738577527478
Bicarbonate-wasting renal tubular acidosis 0.004541738577527478
Sparse eyebrow 0.004541738577527478
Epispadias 0.004541738577527478
Left ventricular diastolic dysfunction 0.004541738577527478
Amaurosis fugax 0.004541738577527478
Blurred vision 0.004541738577527478
Low-to-normal blood pressure 0.004541738577527478
Macular edema 0.004541738577527478
Abnormal 3rd finger morphology 0.004541738577527478
Hypoplasia of the nasal bone 0.004541738577527478
Normochromic anemia 0.004541738577527478
Large posterior fontanelle 0.004541738577527478
Incomplete partition of the cochlea type II 0.004541738577527478
Abnormal femoral torsion 0.004541738577527478
Cough 0.004541738577527478
Abnormality of the spinocerebellar tracts 0.004541738577527478
Gastrointestinal inflammation 0.004541738577527478
Abnormal sex determination 0.004541738577527478
Alveolar process hypoplasia 0.004541738577527478
Abnormal vertebral pedicle morphology 0.004541738577527478
Intrahepatic cholestasis with episodic jaundice 0.004541738577527478
Neck flexor weakness 0.004541738577527478
Cleft earlobe 0.004541738577527478
Palmoplantar scaling skin 0.004541738577527478
Generalized hypopigmentation of hair 0.004541738577527478
Scanning speech 0.004541738577527478
Restless legs 0.004541738577527478
Widened cerebral subarachnoid space 0.004541738577527478
Intraventricular arachnoid cyst 0.004541738577527478
Abnormal maternal serum screening 0.004541738577527478
Mild hypermetropia 0.004541738577527478
Generalized myoclonic-atonic seizure 0.004541738577527478
Multiple lentigines 0.004541738577527478
Carpal bone hypoplasia 0.004541738577527478
Reduced protein S activity 0.004541738577527478
Hyperuricemia 0.004541738577527478
Tetralogy of Fallot with absent pulmonary valve 0.004541738577527478
Distal amyotrophy 0.004541738577527478
Sacral lipoma 0.004541738577527478
Central diaphragmatic hernia 0.004541738577527478
Rhizo-meso-acromelic limb shortening 0.004541738577527478
Aortopulmonary collateral arteries 0.004541738577527478
EEG with focal spikes 0.004541738577527478
Abnormal lacrimal gland morphology 0.004541738577527478
EMG abnormality 0.004541738577527478
Paraparesis 0.004541738577527478
Epiphyseal stippling 0.004541738577527478
Punctate vertebral calcifications 0.004541738577527478
Hydrometrocolpos 0.004541738577527478
Partial vaginal septum 0.004541738577527478
Neonatal intestinal obstruction 0.004541738577527478
Subaortic ventricular septal bulge 0.004541738577527478
Status epilepticus without prominent motor symptoms 0.004541738577527478
Sacral segmentation defect 0.004541738577527478
Aorto-right ventricular tunnel 0.004541738577527478
Hyperplasia of the Leydig cells 0.004541738577527478
Testicular fibrosis 0.004541738577527478
Neural tube defect 0.004541738577527478
Abnormal eye morphology 0.004541738577527478
Glaucomatous visual field defect 0.004541738577527478
Proximal femoral epiphysiolysis 0.004541738577527478
Action tremor 0.004541738577527478
Narrow palm 0.004541738577527478
Cystic angiomatosis of bone 0.004541738577527478
Pulmonary capillary hemangiomatosis 0.004541738577527478
Cyanotic episode 0.004541738577527478
Dysmenorrhea 0.004541738577527478
Limb dysmetria 0.004541738577527478
Mitral atresia 0.004541738577527478
Unilateral vocal cord paresis 0.004541738577527478
Fetal ultrasound soft marker 0.004541738577527478
Cephalohematoma 0.004541738577527478
Profound hearing impairment 0.004541738577527478
Joint swelling 0.004541738577527478
Renal atrophy 0.004541738577527478
Parotitis 0.004541738577527478
Raynaud phenomenon 0.004541738577527478
Right hemiplegia 0.004541738577527478
Class II obesity 0.004541738577527478
Gout 0.004541738577527478
Abnormality of lateral ventricle 0.004541738577527478
Abnormality of the third ventricle 0.004541738577527478
Class III obesity 0.004541738577527478
Microdontia of primary teeth 0.004541738577527478
Renal malrotation 0.004541738577527478
Extrapulmonary sequestrum 0.004541738577527478
Keratoconjunctivitis sicca 0.004541738577527478
Transient hyperphenylalaninemia 0.004541738577527478
Biparietal narrowing 0.004541738577527478
Aplasia of the 4th finger 0.004541738577527478
Fragile teeth 0.004541738577527478
Neuropathic arthropathy 0.004541738577527478
Delayed ability to stand 0.004541738577527478
Intermediate atrioventricular canal defect 0.004541738577527478
Abnormal ear morphology 0.004541738577527478
Mandibular condyle hypoplasia 0.004541738577527478
Abnormal superior vena cava morphology 0.004541738577527478
Dermatochalasis 0.004541738577527478
Hypoplastic labia majora 0.004541738577527478
Bicoronal synostosis 0.004541738577527478
Osteolytic defects of the distal phalanges of the hand 0.004541738577527478
Focal cortical dysplasia 0.004541738577527478
EEG with central focal spikes 0.004541738577527478
Mixed hypo- and hyperpigmentation of the skin 0.004541738577527478
Isomerism 0.004541738577527478
Pericardial effusion 0.004541738577527478
Elevated urinary N,N-dimethylglycine level 0.004541738577527478
Atrial flutter 0.004541738577527478
Cow milk allergy 0.004541738577527478
Abnormal number of permanent teeth 0.004541738577527478
Prenatal movement abnormality 0.004541738577527478
Double outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosis 0.004541738577527478
Progressive ventriculomegaly 0.004541738577527478
Venous thrombosis 0.004541738577527478
Pulmonary situs inversus 0.004541738577527478
Cirrhosis 0.004541738577527478
Vestibular areflexia 0.004541738577527478
Abnormality of the cerebral vasculature 0.004541738577527478
Aortic dissection 0.004541738577527478
Rhabdomyosarcoma 0.004541738577527478
Giant cell hepatitis 0.004541738577527478
1-5 finger complete cutaneous syndactyly 0.004541738577527478
Juxtaductal coarctation of the aorta 0.004541738577527478
Moderate myopia 0.004541738577527478
Stiff ankle 0.004541738577527478
Right bundle branch block 0.004541738577527478
Diffuse leukoencephalopathy 0.004541738577527478
Chronic pain 0.004541738577527478
Lymphangioma of the orbit 0.004541738577527478
Self-neglect 0.004541738577527478
Abnormal vitamin B12 level 0.004541738577527478
Abnormal thoracic spine morphology 0.004541738577527478
Elfin facies 0.004541738577527478
Abnormal basal ganglia MRI signal intensity 0.004541738577527478
Increased skull ossification 0.004541738577527478
Acrocyanosis 0.004541738577527478
Abnormal myelination 0.004541738577527478
Adenocarcinoma of the colon 0.004541738577527478
Thyroid carcinoma 0.004541738577527478
Disinhibition 0.004541738577527478
Hyperintensity of cerebral white matter on MRI 0.004541738577527478
Vocal cord paralysis 0.004541738577527478
Smooth tongue 0.004541738577527478
Cystic lesions of the pinnae 0.004541738577527478
Flat acetabular roof 0.004541738577527478
Clinodactyly of the 3rd finger 0.004541738577527478
Varicocele 0.004541738577527478
Abnormality of the musculature of the upper arm 0.004541738577527478
Abnormality of pancreas physiology 0.004541738577527478
Advanced pneumatization of cranial sinuses 0.004541738577527478
Popliteal pterygium 0.004541738577527478
Bifid ribs 0.004541738577527478
Vascular remnant arising from the disc 0.004541738577527478
Carpal osteolysis 0.004541738577527478
Neoplasm of the adrenal gland 0.004541738577527478
Coronal cleft vertebrae 0.004541738577527478
Pituitary calcification 0.004541738577527478
Thin bony cortex 0.004541738577527478
Gastric ulcer 0.004541738577527478
Dermal atrophy 0.004541738577527478
Asymmetry of the size of ears 0.004541738577527478
Platybasia 0.004541738577527478
Hyperplasia of the maxilla 0.004541738577527478
Aplasia/Hypoplasia involving the sinuses 0.004541738577527478
Narrow greater sciatic notch 0.004541738577527478
Blue nevus 0.004541738577527478
Hyoplasia of the Leydig cells 0.004541738577527478
Abnormality of the alveolar ridges 0.004541738577527478
Spondyloepiphyseal dysplasia 0.004541738577527478
Thickened cortex of bones 0.004541738577527478
Bladder fistula 0.004541738577527478
Iliac crest serration 0.004541738577527478
Lobulated tongue 0.004541738577527478
Osteolysis 0.004541738577527478
Renal artery stenosis 0.004541738577527478
Cloverleaf skull 0.004541738577527478
Antecubital pterygium 0.004541738577527478
Breast hypertrophy 0.004541738577527478
Pseudoepiphyses of the metacarpals 0.004541738577527478
Avascular necrosis 0.004541738577527478
Thymus hyperplasia 0.004541738577527478
Small scrotum 0.004541738577527478
Vasovagal syncope 0.004541738577527478
Red hair 0.004541738577527478
Impaired tandem gait 0.004541738577527478
Osteoarthritis 0.004541738577527478
Hypoxemia in cord blood 0.004541738577527478
Umbilical cord knot 0.004541738577527478
Ankylosis 0.004541738577527478
Interosseus muscle atrophy 0.004541738577527478
Thenar muscle weakness 0.004541738577527478
Abnormal morphology of myocardial trabeculae 0.004541738577527478
Abnormal aortic valve physiology 0.004541738577527478
Corneal ulceration 0.004541738577527478
Mixed demyelinating and axonal polyneuropathy 0.004541738577527478
Lumbar kyphosis 0.004541738577527478
Oroticaciduria 0.004541738577527478
Hyperpigmentation of eyelids 0.004541738577527478
Premature pubarche 0.004541738577527478
Decreased glucose-6-phosphate dehydrogenase level in blood 0.004541738577527478
Urethral diverticulum 0.004541738577527478
Multiple rows of eyelashes 0.004541738577527478
Progressive hearing impairment 0.004541738577527478
Subcutaneous calcification 0.004541738577527478
Large pelvis bone 0.004541738577527478
Neoplasm of the breast 0.004541738577527478
Axial dystonia 0.004541738577527478
Ophthalmoparesis 0.004541738577527478
Cerebral venous thrombosis 0.004541738577527478
Narrow nasal tip 0.004541738577527478
Steep acetabular roof 0.004541738577527478
Hypoplastic nasal tip 0.004541738577527478
Epidermoid cyst 0.004541738577527478
Philtrum with midline raphe 0.004541738577527478
Dorsocervical fat pad 0.004541738577527478
Irregular phalanges 0.004541738577527478
Severe hydrops fetalis 0.004541738577527478
Aplasia/Hypoplasia of the bladder 0.004541738577527478
Encephalomalacia 0.004541738577527478
Suck reflex 0.004541738577527478
Abnormality of the phalanges of the toes 0.004541738577527478
Panic attack 0.004541738577527478
Onychogryposis 0.004541738577527478
Arm dystonia 0.004541738577527478
Restricted neck movement due to contractures 0.004541738577527478
Metopic depression 0.004541738577527478
Squared superior portion of helix 0.004541738577527478
Priapism 0.004541738577527478
Skin rash 0.004541738577527478
Cone dystrophy 0.004541738577527478
Urinary retention 0.004541738577527478
Reduced factor XI activity 0.004541738577527478
Dilatation of renal calices 0.004541738577527478
Congenital, generalized hypertrichosis 0.004541738577527478
EEG with hyperventilation-induced epileptiform discharges 0.004541738577527478
Congenital encephalopathy 0.004541738577527478
EEG with occipital focal spikes 0.004541738577527478
Abnormal size of nasopharyngeal adenoids 0.004541738577527478
Aplasia/Hypoplasia of the 2nd finger 0.004541738577527478
Aplasia/Hypoplasia of the 3rd finger 0.004541738577527478
Aplasia/Hypoplasia of the 4th finger 0.004541738577527478
Skin nodule 0.004541738577527478
Eosinophilic infiltration of the esophagus 0.004541738577527478
Thoracic hemivertebrae 0.004541738577527478
Loose anagen hair 0.004541738577527478
Narrow uvula 0.004541738577527478
Auditory hallucinations 0.004541738577527478
Sparse facial hair 0.004541738577527478
Mitten deformity 0.004541738577527478
Pulmonary venous hypertension 0.004541738577527478
Sinus bradycardia 0.004541738577527478
Posterior subcapsular cataract 0.004541738577527478
Severe limb shortening 0.004541738577527478
Small foramen magnum 0.004541738577527478
Agammaglobulinemia 0.004541738577527478
Hypoplasia of the fovea 0.004541738577527478
Aplasia of the pectoralis major muscle 0.004541738577527478
Paroxysmal dyskinesia 0.004541738577527478
Acromelia 0.004541738577527478
Thoracolumbar kyphosis 0.004541738577527478
Hypocholesterolemia 0.004541738577527478
Recurrent pyelonephritis 0.004541738577527478
Dysplastic sacrum 0.004541738577527478
Fluctuations in consciousness 0.004541738577527478
Frontal lobe dementia 0.004541738577527478
Abnormal coronary artery origin 0.004541738577527478
Thyroid nodule 0.004541738577527478
Difficulty climbing stairs 0.004541738577527478
Gowers sign 0.004541738577527478
Autonomic bladder dysfunction 0.004541738577527478
Loss of ability to walk 0.004541738577527478
Acromicria 0.004541738577527478
Recurrent paroxysmal headache 0.004541738577527478
Dilatation of the ventricular cavity 0.004541738577527478
Postauricular pit 0.004541738577527478
Addictive behavior 0.004541738577527478
Homonymous hemianopia 0.004541738577527478
Right atrial enlargement 0.004541738577527478
Pseudopapilledema 0.004541738577527478
Spastic hemiparesis 0.004541738577527478
Absent distal interphalangeal creases 0.004541738577527478
Bronchospasm 0.004541738577527478
Hepatic hemangioma 0.004541738577527478
Renal oncocytoma 0.004541738577527478
Limb muscle weakness 0.004541738577527478
Decreased fertility in females 0.004541738577527478
Convulsive status epilepticus 0.004541738577527478
Enlarged epiphysis of the distal phalanx of the thumb 0.004541738577527478
Simplified gyral pattern 0.004541738577527478
Diffuse telangiectasia 0.004541738577527478
Thrombophlebitis 0.004541738577527478
Femoral hernia 0.004541738577527478
Partial absence of thumb 0.004541738577527478
Abdominal colic 0.004541738577527478
Absent earlobe 0.004541738577527478
Anasarca 0.004541738577527478
Severe temper tantrums 0.004541738577527478
Allodynia 0.004541738577527478
Cutaneous cyst 0.004541738577527478
Erythema 0.004541738577527478
Increased circulating antibody level 0.004541738577527478
Oliguria 0.004541738577527478
Abnormal liver morphology 0.004541738577527478
Antalgic gait 0.004541738577527478
Arthralgia of the hip 0.004541738577527478
Conjunctival icterus 0.004541738577527478
Dysplastic iliac wings 0.004541738577527478
Esophageal varix 0.004541738577527478
Osteochondritis Dissecans 0.004541738577527478
Atelectasis 0.004541738577527478
Gastrointestinal eosinophilia 0.004541738577527478
Abnormal ascending aorta morphology 0.004541738577527478
Generalized osteoporosis 0.004541738577527478
Flexion contracture of finger 0.004541738577527478
Persistent head lag 0.004541738577527478
Vertebral wedging 0.004541738577527478
Abnormality of fontanelles 0.004541738577527478
Increased theta frequency activity in EEG 0.004541738577527478
Cutaneous hamartoma 0.004541738577527478
Hypoalbuminemia 0.004541738577527478
Palmar pits 0.004541738577527478
Cutis marmorata telangiectatica congenita 0.004541738577527478
Deep venous thrombosis 0.004541738577527478
Podagra 0.004541738577527478
Tetralogy of Fallot with atrioventricular canal defect 0.004541738577527478
Short fifth metatarsal 0.004541738577527478
Unexplained fevers 0.004541738577527478
Juvenile colonic polyposis 0.004541738577527478
Simple ear 0.004541738577527478
Pseudohypoaldosteronism 0.004541738577527478
Absence of pectoralis minor muscle 0.004541738577527478
Abnormality of optic chiasm morphology 0.004541738577527478
Aplasia of the vagina 0.004541738577527478
Asymmetry of the position of the ears 0.004541738577527478
Anterior open-bite malocclusion 0.004541738577527478
Insulin-resistant diabetes mellitus 0.004541738577527478
Agenesis of molar 0.004541738577527478
Fused lumbar vertebrae 0.004541738577527478
Lambdoidal craniosynostosis 0.004541738577527478
Abnormality of the palatine bone 0.004541738577527478
Bicuspid pulmonary valve 0.004541738577527478
Lunate-triquetral fusion 0.004541738577527478
Highly elevated creatine kinase 0.004541738577527478
Repeated pneumothoraces 0.004541738577527478
Breast aplasia 0.004541738577527478
Abnormality of the stapes 0.004541738577527478
Anorchism 0.004541738577527478
Ectopic ossification 0.004541738577527478
Abnormal speech prosody 0.004541738577527478
Hypocitraturia 0.004541738577527478
Maintenance insomnia 0.004541738577527478
Right ventricular failure 0.004541738577527478
Congenital posterior urethral valve 0.004541738577527478
Ventricular extrasystoles 0.004541738577527478
Chronic pancreatitis 0.004541738577527478
Apical hypertrabeculation of the left ventricle 0.004541738577527478
Anterior cervical hypertrichosis 0.004541738577527478
Talipes calcaneovarus 0.004541738577527478
Bilateral tonic-clonic seizure with generalized onset 0.004541738577527478
Retinal astrocytic hamartoma 0.004541738577527478
Increased total bilirubin 0.004541738577527478
Biliary tract abnormality 0.004541738577527478
Plantar flexion contractures 0.004541738577527478
Neuronal/glioneuronal neoplasm of the central nervous system 0.004541738577527478
Central serous chorioretinopathy 0.004541738577527478
Ectopic scrotum 0.004541738577527478
Progressive psychomotor deterioration 0.004541738577527478
Maturity-onset diabetes of the young 0.004541738577527478
Waddling gait 0.004541738577527478
Subcutaneous neurofibromas 0.004541738577527478
Abnormality of radial ray 0.004541738577527478
Periventricular nodular heterotopia 0.004541738577527478
Midgut malrotation 0.004541738577527478

Cohort genome coverage analysis

Distribution of the genome coverage of all mutations characterized in the cohort. Second figure shows the same results for SORs.

Distribution of mutations

Distribution of all mutations along the genome (Length) and the number of patients that have at least one of them (Count). Second figure shows the same for SORs.

HPO annotations distribution

Analysis of the HPO terms within the HPO ontology and the cohort of patients. Left: distribution of terms within the ontology and the cohort. Right: percentage of terms distribution within the ontology and the cohort.

HPOs frequency distribution. Colour based on the HPO frequency.

Clustering patients by HPO profile

All patients are clustered using their HPO profiles. First figure shows the information coefficient distribution for the top clusters. Second figure shows which chromosomes are affected in the patients for each top cluster.

HPO profile redundancy

For each patient profile size (number of phenotypes, x-axis) it is shown the number of HPO phenotypes that are parent of other terms within the profile (number of parent terms, y-axis).

HPO ICs distribution

First figure shows the ICs distribution in terms of the HP ontology (x-axis) and for each single HPO term, its frequency in the cohort according to the HP ontology structure (y-axis) and the second figure shows the same distributions considering the profiles analyzed.

HPO frequency by cluster

Patients in Cluster 0 Phenotypes Frequency
1225 Intellectual disability, Turricephaly, Abnormality of the palpebral fissures, Elbow dislocation, Neoplasm of the gastrointestinal tract, Cerebral atrophy, Narrow mouth, Abnormality of the seventh cranial nerve, Round face, Glaucoma, Increased serum lactate, Bruxism, Long eyelashes, Scleroderma, Achilles tendon contracture, Renal cyst, Episodic ataxia, EEG with localized low amplitude activity, Meningioma, Psychotic mentation, Bilateral cleft lip and palate, 2-3 finger syndactyly, Hepatoblastoma, Abnormality of the thyroid gland, Early onset of sexual maturation, Abnormal hair pattern, Conspicuously happy disposition, Abnormal form of the vertebral bodies, Stroke, Age-related cataract, Metatarsus adductus, Abnormality of body weight, Distal shortening of limbs, 2-4 toe cutaneous syndactyly, Gonadal dysgenesis with female appearance, male, Cutaneous photosensitivity, Radioulnar synostosis, Retinal dystrophy, Abnormality of connective tissue, Protruding tongue, Atonic seizure, Abnormal shape of the frontal region, Rhabdomyolysis, Nonprogressive cerebellar ataxia, Immunodeficiency, Complete duplication of thumb phalanx, Inferior vermis hypoplasia, Cerebellar malformation, Diffuse white matter abnormalities, Limb tremor, Macroorchidism, Myelomeningocele, Unilateral cryptorchidism, Abnormality of the cerebral vasculature, Precocious puberty in males, Multiple cafe-au-lait spots, Chronic kidney disease, Pseudohypoaldosteronism 100.0, 0.0816, 0.0816, 0.0816, 0.0816, 0.0816, 0.0816, 0.0816, 0.0816, 0.0816, 0.0816, 0.0816, 0.0816, 0.0816, 0.0816, 0.0816, 0.0816, 0.0816, 0.0816, 0.0816, 0.0816, 0.0816, 0.0816, 0.0816, 0.0816, 0.0816, 0.0816, 0.0816, 0.0816, 0.0816, 0.0816, 0.0816, 0.0816, 0.0816, 0.0816, 0.0816, 0.0816, 0.0816, 0.0816, 0.0816, 0.0816, 0.0816, 0.0816, 0.0816, 0.0816, 0.0816, 0.0816, 0.0816, 0.0816, 0.0816, 0.0816, 0.0816, 0.0816, 0.0816, 0.0816, 0.0816, 0.0816, 0.0816
Patients in Cluster 1 Phenotypes Frequency
738 Global developmental delay, Bulimia, Abnormality of the cerebellar vermis, Delayed peripheral myelination, Esotropia, Cystic renal dysplasia, Cerebellar malformation, Bilateral cleft palate, Weight loss, Communicating hydrocephalus, Frontoparietal polymicrogyria, Vesicoureteral reflux, Impulsivity, Myopia, Oligodontia, Abnormal pulmonary valve morphology, Encephalitis, Secundum atrial septal defect, Cerebral hamartoma, Generalized joint laxity, Early onset of sexual maturation, Submucous cleft soft palate, Lower limb hyperreflexia, Amenorrhea, Patellar aplasia, Highly arched eyebrow, Chronic otitis media, Abnormal facial expression, Gait disturbance, Hip dysplasia, Excessive salivation, Chronic constipation, Happy demeanor, Finger syndactyly, Dandy-Walker malformation, Neonatal inspiratory stridor, Cerebral ischemia, Bilateral cleft lip and palate, High myopia, Hashimoto thyroiditis, Profound hearing impairment, Inflexible adherence to routines or rituals, Monocular strabismus, Syncope, Coronal craniosynostosis, Cerebellar dysplasia, Progressive language deterioration, Abnormal cerebellum morphology, Hand polydactyly 100.0, 0.1355, 0.1355, 0.1355, 0.1355, 0.1355, 0.1355, 0.1355, 0.1355, 0.1355, 0.1355, 0.1355, 0.1355, 0.1355, 0.1355, 0.1355, 0.1355, 0.1355, 0.1355, 0.1355, 0.1355, 0.1355, 0.1355, 0.1355, 0.1355, 0.1355, 0.1355, 0.1355, 0.1355, 0.1355, 0.1355, 0.1355, 0.1355, 0.1355, 0.1355, 0.1355, 0.1355, 0.1355, 0.1355, 0.1355, 0.1355, 0.1355, 0.1355, 0.1355, 0.1355, 0.1355, 0.1355, 0.1355, 0.1355
Patients in Cluster 2 Phenotypes Frequency
342 Aplasia/Hypoplasia of the thymus, Autism, Sacral dimple, Long palpebral fissure, Tics, Coarse facial features, Epicanthus, Hearing abnormality, Muscle weakness, Obsessive-compulsive behavior, Conductive hearing impairment, Increased serum lactate, Loss of speech, Personality disorder, Abnormality of bone marrow cell morphology, Vesicoureteral reflux, Hypopigmented skin patches, Premature adrenarche, Psychotic episodes 0.2924, 100.0, 0.2924, 0.2924, 0.2924, 0.2924, 0.2924, 0.2924, 0.2924, 0.2924, 0.2924, 0.2924, 0.2924, 0.2924, 0.2924, 0.2924, 0.2924, 0.2924, 0.2924
Patients in Cluster 3 Phenotypes Frequency
259 Autistic behavior, Hypopigmented skin patches on arms, Esotropia, Monocular strabismus, Headache, Visual impairment, Downturned corners of mouth, Chronic constipation, Postural instability, Myopia 100.0, 0.3861, 0.3861, 0.3861, 0.3861, 0.3861, 0.3861, 0.3861, 0.3861, 0.3861
Patients in Cluster 4 Phenotypes Frequency
255 Cognitive impairment, Sleep apnea, Dandy-Walker malformation, High pitched voice, Truncal obesity, Abnormal cerebellum morphology, Cerebral calcification, Cryptorchidism, Pes planus, Bifid uvula, Pseudohypoparathyroidism, Type E brachydactyly 100.0, 0.3922, 0.3922, 0.3922, 0.3922, 0.3922, 0.3922, 0.3922, 0.3922, 0.3922, 0.3922, 0.3922
Patients in Cluster 5 Phenotypes Frequency
221 Intellectual disability, moderate, High palate, Muscular dystrophy, Pectus excavatum, Global brain atrophy, Azoospermia, Thrombocytopenia, Diffuse cerebellar atrophy, Nystagmus, Thoracic scoliosis, Deeply set eye, Pes planus, Eczema, Macrocephaly at birth 100.0, 0.4525, 0.4525, 0.4525, 0.4525, 0.4525, 0.4525, 0.4525, 0.4525, 0.4525, 0.4525, 0.4525, 0.4525, 0.4525
Patients in Cluster 6 Phenotypes Frequency
195 Seizure, Tetraplegia, Cortical tubers, Paroxysmal dystonia, Respiratory insufficiency, Abnormality of the cerebral subcortex, Stroke, Abnormality of the cerebral white matter, Pica, Diffuse cerebellar atrophy, Abnormality of the skeletal system, Talipes equinovarus 100.0, 0.5128, 0.5128, 0.5128, 0.5128, 0.5128, 0.5128, 0.5128, 0.5128, 0.5128, 0.5128, 0.5128
Patients in Cluster 7 Phenotypes Frequency
189 Autism, Intellectual disability, Abnormal vertebral morphology, Renal dysplasia, Macrotia, Hypospadias, Short nose, Repetitive compulsive behavior, Nephropathy, Abnormal thorax morphology, Vertebral fusion, Aplastic/hypoplastic toenail, Bilateral camptodactyly, 2-3 toe syndactyly, Posterior plagiocephaly 100.0, 100.0, 0.5291, 0.5291, 0.5291, 0.5291, 0.5291, 0.5291, 0.5291, 0.5291, 0.5291, 0.5291, 0.5291, 0.5291, 0.5291
Patients in Cluster 8 Phenotypes Frequency
165 Delayed speech and language development, Striae distensae, Prominent fingertip pads, Camptodactyly of finger, Mild postnatal growth retardation, Narrow nasal septum, Deeply set eye, Low anterior hairline, Congenital ptosis, Deviated nasal septum, Intestinal polyposis, Patent foramen ovale, Prominent palatine ridges, Otitis media, Retrognathia, Increased red cell sickling tendency, Alopecia, Impaired ability to form peer relationships, Incomprehensible speech, Poor coordination, Preauricular pit, Arm dystonia, Macular hyperpigmented dermopathy, Aplasia/Hypoplasia of the ear, Patchy alopecia 100.0, 0.6061, 0.6061, 0.6061, 0.6061, 0.6061, 0.6061, 0.6061, 0.6061, 0.6061, 0.6061, 0.6061, 0.6061, 0.6061, 0.6061, 0.6061, 0.6061, 0.6061, 0.6061, 0.6061, 0.6061, 0.6061, 0.6061, 0.6061, 0.6061
Patients in Cluster 9 Phenotypes Frequency
158 Intellectual disability, Optic nerve glioma, Seizure, Morphological central nervous system abnormality, Alacrima, Hoarse voice, Poor eye contact, Hypsarrhythmia, Hypertonia, Renal agenesis, Cerebellar atrophy, Melanoma, Generalized dystonia, Morbus Scheuermann, Delayed gross motor development, Developmental stagnation 100.0, 0.6329, 100.0, 0.6329, 0.6329, 0.6329, 0.6329, 0.6329, 0.6329, 0.6329, 0.6329, 0.6329, 0.6329, 0.6329, 0.6329, 0.6329
Patients in Cluster 10 Phenotypes Frequency
148 Facial palsy, Abnormality of the endocrine system, Rieger anomaly, Amelia involving the upper limbs, Adrenal hypoplasia, Papilledema, Absent hand, Midface retrusion, Abnormal anterior chamber morphology, Congenital hypertrophy of left ventricle, Abnormality of upper lip, Spontaneous pain sensation, Hyperkeratosis, Sagittal craniosynostosis, Semilobar holoprosencephaly, Ovarian gonadoblastoma, Metaphyseal chondrodysplasia, Conotruncal defect, Abnormal speech discrimination, Generalized clonic seizure, Pigmentary retinopathy, 2nd-5th toe middle phalangeal hypoplasia, Abnormality of the adrenal glands, Nonketotic hypoglycemia, Abnormality of the scrotum, Male hypogonadism, Osteopetrosis, Meconium ileus, Rectal prolapse, Abnormal cardiac septum morphology, Long toe, Situs inversus totalis, Abnormality of mouth shape, Cloacal exstrophy, Amniotic constriction ring, Abnormal soft palate morphology, Abnormality of skeletal morphology, Mesoaxial foot polydactyly, Recurrent otitis media, Progeroid facial appearance, Proximal radio-ulnar synostosis, Abnormal cranial nerve morphology, Abnormal circulating glutamine concentration, Remnants of the hyaloid vascular system, Oxycephaly, Hyperpigmentation of the skin, Aqueductal stenosis, Abnormality of the upper limb, Juvenile cataract, Neonatal cholestatic liver disease, Short neck, Multiple exostoses, Pulmonary hypoplasia, Gonadal hypoplasia, Abnormality of the respiratory system, Abnormal hand morphology, Numerous nevi, Hidrotic ectodermal dysplasia, Infertility, Atrophy of the spinal cord, Hypohidrotic ectodermal dysplasia, Fibrous dysplasia of the bones, Panhypopituitarism, Abnormal bronchus morphology, Abnormality of the amniotic fluid, Abnormality of the abdominal organs, Male infertility, Systemic lupus erythematosus, Postnatal cystic hygroma, Asplenia, Ectopic calcification, Metopic synostosis, Exostoses, 1-2 finger syndactyly, Mandibulofacial dysostosis, Abnormal spermatogenesis, Motor deterioration, Lipomatous tumor, Abnormality of head or neck, Aortopulmonary window, Cat cry, CNS hypomyelination, Supracardiac total anomalous pulmonary venous connection, Early onset absence seizures, Neurodegeneration, Microphallus, Renal Fanconi syndrome, Abnormal external genitalia, Prenatal maternal abnormality, Foot oligodactyly, Anemia of inadequate production, Atypical absence seizure, Abdominal aortic aneurysm, Renal tubular dysfunction, Bone marrow hypocellularity, T-cell acute lymphoblastic leukemias, Prelingual sensorineural hearing impairment, Acute leukemia, Joint contracture of the 5th finger, Infantile sensorineural hearing impairment, Abnormality of chromosome segregation, Tetralogy of Fallot with pulmonary stenosis, Microglossia, Dystrophic fingernails, Abnormal cardiovascular system physiology, Disproportionate short-limb short stature, Focal cognitive seizure, Female infertility, Abnormal sperm motility, Presacral teratoma, Abnormal sex determination, Alveolar process hypoplasia, Congenital malformation of the great arteries, Generalized myoclonic-atonic seizure, Abnormality of the uterus, Myofibrillar myopathy, Rhizo-meso-acromelic limb shortening, Pulmonary artery hypoplasia, Dysmenorrhea, Fetal ultrasound soft marker, Osteolytic defects of the distal phalanges of the hand, Adrenal insufficiency, Double outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosis, Facial paralysis, Profound sensorineural hearing impairment, Finger clinodactyly, Ureteral atresia, Bilateral ptosis, Incoordination, Severe hydrops fetalis, Microcoria, Onychogryposis, Ebstein anomaly of the tricuspid valve, Puberty and gonadal disorders, Intrauterine fetal demise of one twin after midgestation, Agammaglobulinemia, Abnormality of the pituitary gland, Decreased fertility in females, Unilateral facial palsy, Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis, Mild hearing impairment, Arthrogryposis-like hand anomaly, Congenital posterior urethral valve, Anemia, Chronic pancreatitis, Hypertrichosis, Progressive psychomotor deterioration, Abnormality of radial ray 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757, 0.6757
Patients in Cluster 11 Phenotypes Frequency
138 Specific learning disability, Oligodontia, Abnormality of body weight, Scoliosis, Imbalanced hemoglobin synthesis, Hydronephrosis, Triangular face, Cognitive impairment, Prominent palatine ridges, High myopia, Distal symphalangism, Deeply set eye, Coarse facial features, Hypermetropia, Progressive cerebellar ataxia, Eczema, Reduced protein S activity, Impulsivity 100.0, 0.7246, 0.7246, 0.7246, 0.7246, 0.7246, 0.7246, 0.7246, 0.7246, 0.7246, 0.7246, 0.7246, 0.7246, 0.7246, 0.7246, 0.7246, 0.7246, 0.7246
Patients in Cluster 12 Phenotypes Frequency
136 Behavioral abnormality, Intellectual disability, Hypoparathyroidism, Prominent fingertip pads, Cystic hygroma, Focal aware seizure, Hypsarrhythmia, Abnormal cerebellum morphology, Prominent forehead, Delayed puberty 100.0, 100.0, 0.7353, 0.7353, 0.7353, 0.7353, 0.7353, 0.7353, 0.7353, 0.7353
Patients in Cluster 13 Phenotypes Frequency
103 Short stature, Anterior pituitary agenesis, Early onset of sexual maturation, Abnormality of body weight, Webbed neck, Short 1st metacarpal, Decreased testicular size, Abnormal palate morphology, Hyperinsulinemia, Mild fetal ventriculomegaly, Madelung-like forearm deformities, Absence of pubertal development, Autistic behavior, Arnold-Chiari malformation, Delayed ability to walk, Skeletal dysplasia 100.0, 0.9709, 0.9709, 0.9709, 0.9709, 0.9709, 0.9709, 0.9709, 0.9709, 0.9709, 0.9709, 0.9709, 0.9709, 0.9709, 0.9709, 0.9709
Patients in Cluster 14 Phenotypes Frequency
100 Intellectual disability, mild, Weight loss, Interphalangeal joint contracture of finger, Monocular strabismus, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Proportionate tall stature, Large fleshy ears, Myopia, Type II diabetes mellitus, Asthma, Macrodontia, Mood swings, Dental malocclusion, Total anomalous pulmonary venous return, Aortic aneurysm, Abdominal obesity, Inguinal hernia, Overweight, Obsessive-compulsive trait, Headache, Ulcerative colitis, Hip dysplasia, Macrotia 100.0, 1.0, 1.0, 1.0, 1.0, 1.0, 1.0, 1.0, 1.0, 1.0, 1.0, 1.0, 1.0, 1.0, 1.0, 1.0, 1.0, 1.0, 1.0, 1.0, 1.0, 1.0, 1.0
Patients in Cluster 15 Phenotypes Frequency
94 Behavioral abnormality, Abnormal corpus callosum morphology 100.0, 1.0638
Patients in Cluster 16 Phenotypes Frequency
88 Intellectual disability, Microcephaly, Macrodontia, Cavernous hemangioma, Sloping forehead, Fibrous dysplasia of the bones, Sandal gap, Ptosis, Sensory impairment, Myopia, Psychotic episodes, Preaxial polydactyly, Broad neck, Obsessive-compulsive behavior, Short neck 100.0, 100.0, 1.1364, 1.1364, 1.1364, 1.1364, 1.1364, 1.1364, 1.1364, 1.1364, 1.1364, 1.1364, 1.1364, 1.1364, 1.1364
Patients in Cluster 17 Phenotypes Frequency
84 Abnormal facial shape, Global developmental delay, Hypocalcemia, Profound sensorineural hearing impairment, Choanal atresia, Coloboma, Myoclonus, Myotonia, Short palm, Overgrowth, Abnormality of cardiovascular system morphology, Basal ganglia calcification, Congenital nystagmus, Plagiocephaly, Renal dysplasia 100.0, 100.0, 1.1905, 1.1905, 1.1905, 1.1905, 1.1905, 1.1905, 1.1905, 1.1905, 1.1905, 1.1905, 1.1905, 1.1905, 1.1905
Patients in Cluster 18 Phenotypes Frequency
83 Abnormality of the face, Intellectual disability, Abnormality of calvarial morphology, Ureteral atresia, Aplasia/Hypoplasia involving the metacarpal bones, Myoclonus, Schizencephaly, Severe T-cell immunodeficiency, Atopic dermatitis, Small hand 100.0, 100.0, 1.2048, 1.2048, 1.2048, 1.2048, 1.2048, 1.2048, 1.2048, 1.2048
Patients in Cluster 19 Phenotypes Frequency
75 Autism, Global developmental delay, Sleep-wake cycle disturbance, T lymphocytopenia, Relative macrocephaly, Arachnoid cyst, Small for gestational age, Increased body weight, Priapism 100.0, 100.0, 1.3333, 1.3333, 1.3333, 1.3333, 1.3333, 1.3333, 1.3333
Patients in Cluster 20 Phenotypes Frequency
66 Delayed speech and language development, Intellectual disability, Myoclonus, Everted lower lip vermilion, Hoarse voice, Cutaneous finger syndactyly, Hypotelorism 100.0, 100.0, 1.5152, 1.5152, 1.5152, 1.5152, 1.5152
Patients in Cluster 21 Phenotypes Frequency
60 Depressivity, Intellectual disability, Psychosis 1.6667, 100.0, 100.0
Patients in Cluster 22 Phenotypes Frequency
55 Mild global developmental delay, Cleft anterior mitral valve leaflet, Postnatal microcephaly, Infantile axial hypotonia, Broad forehead, Abnormal eyebrow morphology, Upper airway obstruction, Rocker bottom foot, Bruising susceptibility, Cognitive impairment, Subglottic stenosis, Thoracic kyphosis, Achilles tendon contracture, Multiple cafe-au-lait spots, Cephalohematoma, Shortening of all phalanges of fingers, Behavioral abnormality 100.0, 1.8182, 1.8182, 1.8182, 1.8182, 1.8182, 1.8182, 1.8182, 1.8182, 1.8182, 1.8182, 1.8182, 1.8182, 1.8182, 1.8182, 1.8182, 1.8182
Patients in Cluster 23 Phenotypes Frequency
54 Bilateral tonic-clonic seizure, Delayed speech and language development, Global developmental delay, Unilateral cleft lip, Congenital conductive hearing impairment, Cone/cone-rod dystrophy, Unilateral ptosis, Psychomotor retardation, Subcortical cerebral atrophy 1.8519, 100.0, 100.0, 1.8519, 1.8519, 1.8519, 1.8519, 1.8519, 1.8519
Patients in Cluster 24 Phenotypes Frequency
53 Abnormal facial shape, Intellectual disability, Bicuspid aortic valve, Pectus excavatum, Clinodactyly of the 5th finger, Hypospadias, Hypocalcemia, Shortening of all distal phalanges of the fingers 100.0, 100.0, 1.8868, 1.8868, 1.8868, 1.8868, 1.8868, 1.8868

Patient profiles heatmaps

For each patient, their HPO profile similarity coefficient is calculated according to the different methods specified in the analysis and represented in these heatmaps.